Benign Hematological Disorders

บรษิทัทีเอสอนิเตอรพ์ริ้นท์จำกดั

วทิ ยาลยั แพทยศาสตรพ์ ระมงกุฎเกลา้ ทกุ คา่ เชา้ เคยฝกึ ไดศ้ กึ ษา
มอบความรู้ความคิดวทิ ยา จึงเตบิ โตกา้ วหนา้ วิชาไกล
ประดุจบา้ นให้ชวี ิตได้อาศัย
เปน็ มากกวา่ ทีท่างานกอปรการกิจ ระลึกคุณมนั ไวไ้ ม่ลืมเลอื น
ชว่ ยสร้างเสริมเตมิ แตง่ เปน็ แรงใจ

4 ®π—∑√“¿“ »√ ’«— ¥Ï‘

คำนิยม

ตำรำ โลหติ วทิ ยาในเดก็ และวยั รุ่น เล่มนี้เป็นผลงำนทบี่ รรณำธิกำร ได้รวบรวมควำมร้คู วำมก้ำวหน้ำ
เกี่ยวกับโรคทำงโลหิตวิทยำในเด็กและวัยรุ่นที่ทันสมัย ท้ังในเร่ืองควำมรู้พ้ืนฐำน สำเหตุ ลักษณะโรค และ
กระบวนกำรดูแลรักษำผู้ป่วยเด็กเหล่ำนี้ให้มีประสิทธิภำพสูงสุด โดยได้มีกำรจัดทำเพ่ิมเติมในรูปแบบ e-
book เพอ่ื ใหเ้ ข้ำถึงได้งำ่ ยในทุกระดบั

เชอื่ ม่นั ว่ำตำรำเล่มน้ีจะเป็นประโยชน์สำหรบั นกั ศึกษำแพทย์ แพทยป์ ระจำบำ้ น แพทย์และบุคลำกร
ทำงกำรแพทย์จะได้ใช้เป็นประโยชนใ์ นกำรศกึ ษำ ค้นควำ้ และเป็นแนวทำงในกำรดูแลรักษำผู้ปว่ ยทำงโลหิต
วทิ ยำในเด็กและวัยรุ่นให้เจริญเตบิ โตเปน็ ผ้ใู หญ่ทแ่ี ขง็ แรงและมีคุณภำพชีวติ ท่ดี ตี ่อไป

ศำสตรำจำรย์เกยี รติคุณ พลโทหญิง ทิพย์ ศรไี พศำล

6 ®π—∑√“¿“ »√ ’«— ¥Ï‘

คำนำ

โลหิตวิทยำในเด็กและวัยรุ่นเป็นกลุ่มโรคที่มีควำมสำคัญมำก เน่ืองจำกในปัจจุบันมีกำรวิจัย
และมีเทคโนโลยีท่ีพัฒนำขึ้นมำก ผู้นิพนธ์ได้เรียบเรียงข้ึนโดยมีวัตถุประสงค์เพื่อเผยแพร่ควำมรู้ท่ีทันสมัย
เก่ียวกับโรคทำงโลหิตวิทยำในผู้ป่วยเด็กและวยั รุ่น ซ่ึงมีควำมแตกต่ำงจำกในผู้ใหญ่ เนื้อหำของตำรำเล่มนี้
ได้ประมวลและเรียบเรียงควำมก้ำวหน้ำใหม่ๆ ของกำรวิจัยทำงโลหิตวิทยำในเด็กและวัยรุ่นโดยครอบคลุม
ประเด็นต่ำง ๆ ทั้งแนวทำงกำรวินิจฉัยและกำรรักษำที่สำคัญในประเทศไทย ท้ังในเชิงทฤษฎีและกำร
ประยุกตใ์ ช้จำกแหล่งข้อมลู ทอ่ี ำ้ งองิ และไดผ้ สมผสำนกบั ผลงำนของผ้นู พิ นธแ์ ละคณะท่ีทำในประเทศ เพื่อให้
เห็นควำมแตกต่ำงของลักษณะในเด็กไทยเพ่ือนำมำประยุกต์กับระบบสำธำรณสุข โดยมีผู้ร่วมนิพนธ์เป็น
คณำจำรยก์ มุ ำรแพทย์ท่ีมีควำมเช่ียวชำญและประสบกำรณด์ ้ำนกมุ ำรเวชศำสตร์และเปน็ ผูเ้ ช่ียวชำญในสำขำ
ต่ำงๆร่วมนิพนธ์ ตำรำเล่มน้ีผู้นิพนธ์ได้รวบรวมควำมรู้และกลั่นกรองให้ง่ำยต่อกำรอ่ำน โดยเป็นกำร
จดั ทำคร้ังที่ 2 ในรปู แบบ e-book เพ่ือเผยแพรค่ วำมรทู้ ำงด้ำนนี้สำหรับนักศึกษำแพทย์ แพทยท์ ่วั ไป แพทย์
ประจำบ้ำน และกุมำรแพทย์ รวมถึงผู้สนใจสำมำรถใช้เป็นแนวทำงในกำรดูแลรักษำผู้ป่วยทำงโลหิตวิทยำ
ในเดก็ และวยั ร่นุ ใหม้ ปี ระสิทธิภำพสงู สุด

ผู้นิพนธ์ขอกรำบขอบพระคุณบิดำมำรดำผู้มอบชีวิตและทำให้ได้มีโอกำสได้ทำงำนในวิชำชีพที่รัก
และ ศำสตรำจำรย์เกียรติคุณพลโทหญิงแพทย์หญิงทิพย์ ศรีไพศำล ครูแพทย์คนแรกท่ีมอบโอกำสในกำร
ทำงำนในสำขำวิชำชีพ ตลอดจนอำจำรย์โลหิตวิทยำในเด็กทุกท่ำนที่ได้ส่ังสอนซึ่งเป็นส่วนสำคัญใน
ควำมสำเรจ็ ในชีวิตของผนู้ ิพนธ์

ผนู้ พิ นธ์ขอขอบคุณโครงกำรตำรำ วิทยำลัยแพทยศำสตร์พระมงกุฎเกลำ้ ที่สนบั สนุนในกำรจัดพิมพ์
ตำรำเลม่ นี้ ขอขอบคุณผรู้ ว่ มนิพนธ์ทกุ ท่ำนท่ีสละเวลำมำรว่ มเขยี นตำรำเล่มน้ใี หส้ มบูรณ์ครบถ้วน ผนู้ พิ นธ์
หวังว่ำตำรำโลหิตวิทยำในเด็กและวัยรุ่นเล่มนี้จะเป็นแหล่งควำมรู้และเป็นส่ือกำรสอน ท่ีสำมำรถนำไป
ประยุกต์ใชใ้ นกำรดูแลรกั ษำผ้ปู ว่ ยโลหิตวทิ ยำในเดก็ และวยั รนุ่ ในประเทศไทยตอ่ ไป

ศำสตรำจำรย์ พันเอก นำยแพทย์ ชำญชัย ไตรวำรี

บรรณำธกิ ำร

8 ®π—∑√“¿“ »√ ’«— ¥Ï‘

ผนู้ พิ นธ์/บรรณำธกิ ำร

ชำญชัย ไตรวำรี

พ.บ.,ว.ว.กมุ ำรเวชศำสตร์โรคเลือด, วท.ม.(ระบำดวทิ ยำ)
Certificate in Pediatric Hematology-Oncology

Certificate in Pediatric Thrombosis & Hemostasis
Certificate in Medical Education
Certificate in Bioethics
พนั เอก ศำสตรำจำรย์
สำขำวชิ ำโลหติ วิทยำและมะเรง็ วิทยำ

ภำควิชำกุมำรเวชศำสตร์ วทิ ยำลัยแพทยศำสตรพ์ ระมงกฎุ เกลำ้

10 ®π—∑√“¿“ »√ ’«— ¥Ï‘

ผ้รู ว่ มนพิ นธ์

เขมกิ ำ เขมะกนก สุดนำวำ ยหิ วำ สขุ สวสั ด์ิ
พ.บ.,ว.ว.กุมำรเวชศำสตร์ พ.บ.,ว.ว.กมุ ำรเวชศำสตร์
ว.ว.กุมำรเวชศำสตรพ์ ัฒนำกำรและพฤติกรรม ว.ว.กมุ ำรเวชศำสตร์โรคภมู ิแพแ้ ละภมู ิคุ้มกนั
รอ้ ยเอกหญิง ผชู้ ว่ ยศำสตรำจำรย์ พนั โทหญงิ อำจำรย์
สำขำวชิ ำพัฒนำกำรและพฤติกรรมเดก็ สำขำวิชำโรคภูมแิ พแ้ ละภูมิคมุ้ กัน
ภำควชิ ำกมุ ำรเวชศำสตร์ ภำควิชำกุมำรเวชศำสตร์
วทิ ยำลยั แพทยศำสตรพ์ ระมงกฎุ เกลำ้ วทิ ยำลัยแพทยศำสตรพ์ ระมงกุฎเกลำ้

ชำลินี มนต์เสรีนุสรณ์ ปยิ ะ รุจกิจยำนนท์
พ.บ.,ว.ว.กุมำรเวชศำสตร์ พ.บ.,อ.ว.กุมำรเวชศำสตร์
ว.ว.โลหิตวทิ ยำและมะเรง็ ในเดก็ Diplomate of the American Board of Pediatrics
Certificate in Pediatric Oncology Diplomate of the American Board of Pediatric
พนั เอกหญิง รองศำสตรำจำรย์ Hematology-Oncology
สำขำวิชำโลหิตวิทยำและมะเร็งวิทยำ พันเอก ศำสตรำจำรย์
ภำควชิ ำกุมำรเวชศำสตร์ สำขำวชิ ำโลหิตวิทยำและมะเรง็ วทิ ยำ
วทิ ยำลยั แพทยศำสตร์พระมงกุฎเกลำ้ ภำควิชำกุมำรเวชศำสตร์
วทิ ยำลัยแพทยศำสตรพ์ ระมงกฎุ เกล้ำ
บุญชยั บุญวัฒน์
พ.บ. ,ว.ว.กุมำรเวชศำสตร์ วรลกั ษณ์ ภัทรกจิ นริ ันดร์
ประกำศนยี บัตรแพทย์ประจำบำ้ นตอ่ ยอด พ.บ.ว.ว.กุมำรเวชศำสตร์
อนุสำขำเวชพันธศุ ำสตร์ ว.ว.กมุ ำรเวชศำสตรต์ ่อมไร้ท่อและเมตำบอลิสม
Certificate in Molecular Genetics Certificate in Metabolic Bone Disease and Molecular
พนั เอก รองศำสตรำจำรย์ Research
สำขำวชิ ำเวชพนั ธุศำสตร์ พนั โทหญงิ ผ้ชู ว่ ยศำสตรำจำรย์
ภำควิชำกุมำรเวชศำสตร์ สำขำวชิ ำต่อมไร้ทอ่ และเมตำบอลสิ ม
วิทยำลัยแพทยศำสตร์พระมงกฎุ เกลำ้ ภำควิชำกุมำรเวชศำสตร์
วทิ ยำลยั แพทยศำสตรพ์ ระมงกฎุ เกลำ้

ภิรดี สวุ รรณภกั ดี อภชิ ำติ โพธิอะ
พ.บ.,ว.ว.กมุ ำรเวชศำสตร์
พ.บ.,ว.ว.กมุ ำรเวชศำสตร์ ว.ว.โลหติ วทิ ยำและมะเรง็ ในเด็ก
พนั โท ผู้ช่วยศำสตรำจำรย์
ว.ว.กุมำรเวชศำสตรป์ ระสำทวทิ ยำ สำขำวชิ ำโลหิตวทิ ยำและมะเร็งวทิ ยำ
Certificate in Pediatric Epilepsy ภำควิชำกมุ ำรเวชศำสตร์
พนั เอกหญงิ ผ้ชู ่วยศำสตรำจำรย์ วิทยำลยั แพทยศำสตร์พระมงกฎุ เกล้ำ
สำขำวชิ ำประสำทวิทยำ
ภำควชิ ำกมุ ำรเวชศำสตร์ นวชยั เลศิ วิวฒั นพงษ์
วิทยำลัยแพทยศำสตรพ์ ระมงกุฎเกลำ้ พ.บ.ว.ว.กุมำรเวชศำสตร์
ว.ว.โลหิตวทิ ยำและมะเรง็ ในเดก็
พันตรี อำจำรย์
สำขำวิชำโลหิตวทิ ยำและมะเรง็ วิทยำ
ภำควิชำกุมำรเวชศำสตร์
วิทยำลัยแพทยศำสตรพ์ ระมงกฎุ เกล้ำ

Abnormal Bleeding 13

 “√∫≠— Àπ“â
1
1 ‡∫µ“â-∏“≈— ´‡’¡¬’ 23
ß-Thalassemia 35
™“≠™—¬ ‰µ√«“√’ 57
73
2 ·Õ≈ø“É-∏“≈ —´‡’¡¬’ 91
α-Thalassemia
™“≠™¬— ‰µ√«“√’ 105

3 Œ‚’¡ø‡ï≈¬’
Hemophilia
™“≠™—¬ ‰µ√«“√’

4 ‚√§‡°≈¥Á‡≈◊Õ¥µË”®“°√–∫∫Õ¡‘¡πŸ
Immune Thrombocytopenia
™“≠™¬— ‰µ√«“√’

5 ¿“«–º‘¥ª°µ¢‘ÕßÀ≈Õ¥‡≈Õ◊¥·µ°à”‡π¥‘
Congenital Vascular Anomalies
™“≈‘π’¡πµå‡ √π’ ÿ √≥å

6 ¿“«–º¥‘ª°µ‘¢Õ߇°≈Á¥‡≈Õ◊¥·µà°”‡π¥‘
Inherited Platelet Disorders
™“≠™¬— ‰µ√«“√’

7 ¿“«–º¥‘ª°µ¢‘Õß°“√·¢ßÁµ«—¢Õ߇≈Õ◊¥·µà°”‡π‘¥™π‘¥∑æ’Ë∫‰¡∫à àÕ¬
Rare Inherited Coagulation Disorders
™“≠™¬— ‰µ√«“√’

14 ®—π∑√“¿“ »√’ «— ¥‘Ï

 “√∫≠— Àπ“â
119
8 ¿“«–‡¡Á¥‡≈◊Õ¥·¥ß·µ°ßà“¬º‘¥ª°µ·‘µ°à”‡π‘¥ 135
Inherited Hemolytic Anemia 145
Õ¿™‘“µ‘‚æ∏‘Õ– 165
179
9 ¿“«–º‘¥ª°µ‘¢Õß°≈ÿà¡‚√§‰¢°√–¥Ÿ°ΩÕÉ·µ°à”‡π‘¥ 191
Inherited Bone Marrow Failure Syndromes 211
ª¬î – √ÿ®°®‘¬“ππ∑å

10 ‚√§¿¡Ÿ‘§ÿ¡â °—π∫°æ√àÕߪ∞¡¿Ÿ¡‘
Primary Immunodeficiency Disease
¬À‘«“  ¢ÿ « —¥‘Ï

11 ¿“«–‚≈À‘µ®“ß®“°°“√¢“¥ “√Õ“À“√
Nutritional Anemia
™“≈‘π’¡πµ‡å √’πÿ √≥å

12 ª≠í À“‡≈◊Õ¥°”‡¥“ÕÕ°„π‡¥°Á
Epistaxis in Children
Õ¿‘™“µ‘‚æ∏‘Õ–

13 ª≠í À“ª√–®”‡¥Õ◊πº¥‘ª°µ„‘π«—¬√ÿàπ
Abnormal Menstruation in Adolescents
Õ¿™‘“µ‘‚æ∏‘Õ–

14 ¿“«–≈¡‘ˇ≈Õ◊¥Õ¥ÿµπ—„π‚√ß欓∫“≈
Thromboembolism in Hospital
™“≠™—¬ ‰µ√«“√’

Abnormal Bleeding 15

 “√∫≠— Àπ“â
225
15 ‚√§À≈Õ¥‡≈Õ◊¥ ¡ÕßÕ¥ÿµπ—„π‡¥°Á·≈–«—¬√πÿà 235
Stroke in Children and Adolescents 249
¿‘√¥’ ÿ«√√≥¿—°¥’ 257
269
16 °“√„À‡â≈Õ◊¥·≈–¿“«–·∑√°´âÕπ 279
Blood Transfusion and Its Complications 297
Õ¿‘™“µ‘‚æ∏Õ‘– 319

17 ¿“«–·∑√°´Õâπ∑“ßµÕࡉ√∑â àÕ„πºªâŸ«É¬‡¥°Á‚√§∏“≈— ´’‡¡’¬
Endocrinopathy Complications in Thalassemia Disease
«√≈°—…≥å¿—∑√°®‘π√‘—π¥√å

18 °“√ª≈°Ÿ∂à“¬‡´≈≈µå πâ °”‡π¥‘‡¡Á¥‡≈◊Õ¥·≈–¬’π∫”∫—¥
Hematopoietic Stem Cell Transplantation and Gene Therapy
ªî¬– √®ÿ°®‘¬“ππ∑å

19 °“√¥Ÿ·≈ ¿“段‘„®„πºŸâª«É¬‡¥Á°∑“ß‚≈Àµ‘«‘∑¬“
Psychological Aspects in Children with Benign Hematology
‡¢¡‘°“ ‡¢¡–°π°  ÿ¥π“«“

20 °“√µ√«®∑“ßÕ≥æŸπ—∏ÿ»“ µ√ å ”À√∫—‚√§∑“ß‚≈Àµ‘«‘∑¬“
Molecular Genetic Testing in Benign Hematology
∫ÿ≠™—¬ ∫≠ÿ «≤— πå

21 ºªâŸÉ«¬°√≥’»÷°…“
Case Studies
™“≠™—¬ ‰µ√«“√’

22 ยาที่ใชในโรคไขกระดูกฝอ
Drugs used in Aplastic anemia
นวชัย เลิศววิ ฒั นพงษ

16 ®π—∑√“¿“ »√ ’«— ¥‘Ï

 “√∫≠— Àπ“â
331
¥—™π’ 354
Index 367
Õ¿∏‘“π»æ— ∑å(‰∑¬-Õß—°ƒ…) 379
Glossary (Thai-English) 389
Õ¿∏‘“π»æ— ∑å(Õß—°ƒ…-‰∑¬)
Glossary (English-Thai)
Õ—°…√¬Õà
Abbreviation
√ªŸª√–°Õ∫ 4  ’
Four-colour illustration

Abnormal Bleeding 17

 “√∫≠— µ“√“ß

µ“√“ß∑’Ë1.1 ≈—°…≥–°“√°≈“¬æπ—∏ÿ¢åÕß‚√§‡∫µ“â-∏“≈— ´‡’¡¬’„π‡¥°Á„πª√–‡∑»‰∑¬ Àπ“â
µ“√“ß∑Ë’1.2 §«“¡ —¡æ—π∏√å–À«à“ß™π¥‘¢Õß°“√°≈“¬æπ—∏å·ÿ≈–º≈µ√«®∑“ßÀÕâߪØ∫‘µ—‘°“√ 4
µ“√“ß∑Ë’1.3 „πºŸªâÉ«¬ β-thalassemia/Hb E 8
µ“√“ß∑’Ë1.4 ™π‘¥¢Õß°“√°≈“¬æ—π∏ÿ°å—∫™π‘¥¢Õß β0-thalassemia ·≈– β+-thalassemia 9
µ“√“ß∑Ë’2.1 §≥ÿ ¡∫µ—‘¢Õ߬“¢—∫‡À≈°Á∑„’Ë™„âπª√–‡∑»‰∑¬ 15
µ“√“ß∑’Ë2.2 ≈°—…≥–°“√°≈“¬æ—π∏ÿ¢åÕß‚√§·Õ≈øÉ“-∏“≈— ´’‡¡’¬„πª√–‡∑»‰∑¬ 26
µ“√“ß∑Ë’3.1 º≈µ√«®∑“ßÀÕâߪØ∫‘—µ‘°“√·≈–™π¥‘¢Õߌ’‚¡≈‚°≈∫‘π¢ÕߺªŸâ«É¬‚√§ Hb H ·≈– 29
µ“√“ß∑’Ë3.2 ºªâŸ«É¬‚√§ AE Bartûs 39
µ“√“ß∑’Ë4.1 ·π«∑“ß°“√√°—…“Õ“°“√‡≈Õ◊¥ÕÕ°¥â«¬·ø§‡µÕ√凢¡â ¢âπ„πºâªŸ«É¬‚√§Œ‚’¡ø‡ï≈’¬ 48
µ“√“ß∑’Ë4.2 ¿“«–°“√‡°¥‘‡≈Õ◊¥ÕÕ°„π ¡Õß´È”„πºªâŸ«É¬‚√§Œ’‚¡øï‡≈’¬ 65
µ“√“ß∑’Ë5.1 ¢π“¥·≈–°“√µÕ∫ πÕߢÕ߬“∑’Ë„™â√°—…“ ITP „π‡¥Á° 67
µ“√“ß∑Ë’5.2 °“√„™¬â“ second-line „πºªŸâ«É¬ ITP ‡√ÕÈ◊√ß—„π‡¥°Á 75
µ“√“ß∑’Ë6.1 §«“¡·µ°µà“ߢÕß vascular tumor ·≈– vascular malformation 83
µ“√“ß∑’Ë7.1 §«“¡·µ°µà“ߢÕß hemangioma ·≈– kaposiform hemangioendothelioma 96
µ“√“ß∑Ë’7.2 ‡°≥±å°“√«‘π®‘©—¬°≈¡àÿ‚√§ MYH-9 related disorders
µ“√“ß∑’Ë8.1 §«“¡™ÿ°·≈–¬’π∫π‚§√‚¡‚´¡∑Ë’‡°’ˬ«¢âÕß·≈–√–¥—∫¢Õß·ø§‡µÕ√„åπ·µ≈à–‚√§ 106
µ“√“ß∑’Ë8.2  à«πª√–°Õ∫¢Õ߇≈◊Õ¥·≈–§à“ half-life ¢Õß ·ø§‡µÕ√µå“àßÊ 114
µ“√“ß∑Ë’8.3 §«“¡√ÿπ·√ߢÕߺ⟪ɫ¬ hereditary spherocytosis 122
µ“√“ß∑’Ë8.4 ≈—°…≥–°≈ÿà¡·≈–§«“¡√πÿ·√ߢÕߺªâŸÉ«¬ G6PD enzyme deficiency variant 128
µ“√“ß∑Ë’9.1 G6PD enzyme deficiency subtype ∑Ëæ’∫‰¥â∫àÕ¬ 129
µ“√“ß∑Ë’10.1 ¬“·≈– “√‡§¡∑’’˺Ÿªâ«É¬ G6PD deficiency ∑§’Ë«√À≈’°‡≈’¬ËßÀ√Õ◊ “¡“√∂„™â‰¥â 132
µ“√“ß∑’Ë10.2 §«“¡º¥‘ª°µ∑‘“ßæπ—∏°ÿ√√¡·≈–°“√ ßàµ√«®∑“ßÀÕâߪؑ∫—µ‘°“√‡æ‘¡Ë‡µ¡‘„π°≈¡àÿ‚√§ 141
µ“√“ß∑Ë’10.3 ‰¢°√–¥°ŸΩÉÕ∑’‡Ë°‘¥¢È÷πµÈ—ß·µ°à ”‡π‘¥ 147
µ“√“ß∑Ë’10.4 ≈—°…≥–Õ“°“√ Õ“¬∑ÿ‡’Ë√‘¡Ë¡Õ’“°“√ ™π¥‘¢Õ߇™È◊Õ ·≈–≈—°…≥–摇»…„πºŸâªÉ«¬‚√§¿Ÿ¡‘ 150
µ“√“ß∑’Ë11.1 §âÿ¡°—π∫°æ√àÕߪ∞¡¿Ÿ¡™‘𥑵“àßÊ 155
™π‘¥¢Õß‚√§ severe combined immunodeficiency (SCID) ·≈–§«“¡º¥‘ 158
ª°µ‘∑“ßæπ—∏°ÿ√√¡¢Õß·µà≈–™π¥‘ 167
º≈°“√µ√«®√–¥∫—¿Ÿ¡§‘¡ÿâ °π—„π°“√«π‘®‘©¬—‚√§∑’¡Ë’§«“¡º¥‘ª°µ‘¢Õ߇¡Á¥‡≈◊Õ¥¢“«
B cell
Scoring system ‡æ◊ÕË¥Ÿ≈°—…≥–Õ“°“√∑Ë ’—¡æπ—∏å°∫—°“√°≈“¬æπ—∏åÿ¢Õ߬π’ WAS
 “‡Àµ¢ÿÕß iron deficiency anemia ·∫àßµ“¡æ¬“∏‘ ¿“æ

18 ®—π∑√“¿“ »√ ’«— ¥‘Ï

µ“√“ß∑Ë’11.2 °“√«‘π‘®©—¬·¬°¿“«–‡≈◊Õ¥®“ß®“°°“√¢“¥∏“µ‡ÿÀ≈Á° ‚√§∏“≈ —´’‡¡’¬ ·≈–¿“«– Àπ“â
µ“√“ß∑’Ë11.3 anemia of chronic disease ‚¥¬°“√µ√«®∑“ßÀâÕߪØ∫‘µ—‘°“√
µ“√“ß∑Ë’12.1 °“√µ√«®∑“ßÀâÕߪØ∫‘—µ°‘“√„πºŸâªÉ«¬∑¢Ë’“¥«µ‘“¡π‘∫’12 ·≈– ‚ø‡≈µ 169
µ“√“ß∑’Ë12.2 °“√„À§â –·ππ„π°“√ª√–‡¡π‘¿“«–‡≈◊Õ¥°”‡¥“ÕÕ° 176
µ“√“ß∑’Ë12.3 √–¥—∫§«“¡√πÿ·√ߢÕß¿“«–‡≈◊Õ¥°”‡¥“ÕÕ° 186
µ“√“ß∑Ë’13.1 ¬“∑’Ë„™„âπ°“√√—°…“¿“«–‡≈Õ◊¥°”‡¥“ÕÕ° 186
µ“√“ß∑’Ë13.2 §”®”°—¥§«“¡¢Õߧ«“¡º¥‘ª°µ¢‘Õߪ√–®”‡¥◊Õπ 188
µ“√“ß∑’Ë13.3 ≈°—…≥–∑“ߧ≈π‘°‘¢Õß ovulatory DUB ·≈– anovulatory DUB 195
µ“√“ß∑Ë’13.4 √–¥∫—§«“¡√ÿπ·√ߢÕߪ√–®”‡¥◊Õπº¥‘ª°µ‘ 197
µ“√“ß∑Ë’14.1 ™π¥‘¢ÕߌÕ√å‚¡π·≈–°“√∫√‘À“√¬“‡æ◊ÕË„™„âπ°“√À¬¥ÿ‡≈Õ◊¥∑ÕË’Õ°®“°¡¥≈°Ÿ 204
µ“√“ß∑Ë’14.2 ™π¥‘¢Õß√ß— ’«‘π®‘©¬—„πºªâŸÉ«¬≈Ë¡‘‡≈◊Õ¥Õÿ¥µπ—„π‡¥°Á 206
µ“√“ß∑’Ë14.3 ≈°—…≥–¢ÕßÕ“°“√≈Ë¡‘‡≈◊Õ¥Õÿ¥µ—π·≈–°“√µ√«®∑“ßÀâÕߪؑ∫µ—‘°“√ 213
µ“√“ß∑Ë’14.4 ¢π“¥¬“·≈–°“√µ‘¥µ“¡√–¥∫—¢Õ߬“¢Õß UFH 215
µ“√“ß∑’Ë14.5 ¢π“¥¬“·≈–°“√µ‘¥µ“¡√–¥∫—¢Õ߬“ LMWH 218
µ“√“ß∑’Ë15.1 ¢π“¥¬“·≈–°“√µ¥‘µ“¡√–¥—∫¬“ warfarin 219
µ“√“ß∑Ë’16.1 §«“¡·µ°µà“ß√–À«à“ß CSVT ·≈– AIS 220
µ“√“ß∑Ë’16.2 °“√‡≈◊Õ°„™âº≈‘µ¿—≥±å®“°‡≈Õ◊¥·¥ß„πºŸâªÉ«¬À¡Ÿà‡≈◊Õ¥µ“àßÊ 226
µ“√“ß∑Ë’16.3 °“√¢Õ„™‚â≈À‘µ„𧫓¡‡√ßà¥à«πµà“ßÊ 237
µ“√“ß∑’Ë19.1 °“√‡≈Õ◊°„™âæ≈“ ¡“„πºŸªâ «É¬À¡Ÿ‡à≈Õ◊¥µà“ßÊ 238
µ“√“ß∑Ë’19.2 ªí®®¬—∑Ë’¡º’≈µÕàæ—≤π“°“√·≈–惵°‘√√¡¢Õߺ⟪«É¬‡¥°Á‚√§‡√È◊Õ√—ß 240
µ“√“ß∑’Ë19.3 æ≤—π“°“√¢Õ߇¥°Á‡°¬Ë’«°—∫§«“¡‡¢“â„®¿“«–§«“¡‡®Á∫ª«É¬ 272
µ“√“ß∑’Ë21.1 «‘∏°’“√‡æ¡Ë‘ª√– ‘∑∏¿‘“æ°“√ Õ◊Ë “√°∫—ºªâŸÉ«¬‡¥°Á·≈–§√Õ∫§√—« (TEACHER) 273
µ“√“ß∑’Ë21.2 ™π‘¥¢Õß von Willebrand disease 275
µ“√“ß∑’Ë21.3 º≈°“√µ√«® von Willebrand factor „π§√Õ∫§√—«ºâªŸÉ«¬√“¬∑Ë’2 304
µ“√“ß∑’Ë21.4 º≈°“√µ√«® mixing test „πºªŸâ«É¬√“¬∑Ë’4 305
µ“√“ß∑Ë’21.5 º≈°“√µ√«® dilute Russellûs viper venom time (dRVVT) „πºªŸâ«É¬√“¬∑Ë’4 309
The Systemic Lupus International Collaborating Clinics (SLICC) 309
ªï2012
310

Abnormal Bleeding 19

 “√∫≠— √ªŸ

Àπ“â

√ªŸ∑’Ë1.1 ≈°—…≥–¢Õ߬π’β-globin ·≈–°“√ √“âß “¬‚ª√µπ’‚°≈∫π‘„π·µ≈à–™«àßÕ“¬§ÿ√√¿å 3
√ªŸ∑’Ë1.2 ≈°—…≥–¢Õß ‡¡¬’√‡å≈Õ◊¥·≈–º≈ hemoglobin typing „πºªâŸ«É¬‡∫µ“â-∏“≈ —´‡’¡¬’·µà 10
√ªŸ∑’Ë2.1 ≈–™π¥‘‚¥¬«∏‘’capillary electrophoresis (CE) 24
√ªŸ∑’Ë2.2 ≈°—…≥–¢Õ߬π’ α-globin ·≈–™π¥‘¢Õßæ“À–·≈–‚√§·Õ≈ø“É-∏“≈ —´‡’¡¬’ 30
√ªŸ∑Ë’3.1 ≈°—…≥–¢Õß inclusion body ·≈– º≈ hemoglobin typing „πºªŸâ«É¬·Õ≈ø“É-∏“≈ —´‡’¡¬’ 36
√ªŸ∑Ë’3.2 ·µ≈à–™π¥‘‚¥¬«∏‘’capillary electrophoresis (CE) 46
√ªŸ∑Ë’3.3  «àπª√–°Õ∫¢Õ߬π’ F 8 51
√ªŸ∑’Ë4.1 °≈‰°°“√ÕÕ°ƒ∑∏¢Ï‘Õ߬“√°—…“‚√§Œ‚’¡ø‡ï≈¬’™π¥‘„À¡à 59
√ªŸ∑’Ë5.1 ««‘≤—π“°“√¢Õß°“√√°—…“ºªâŸ«É¬Œ‚’¡ø‡ï≈¬’®“°Õ¥µ’∂ß÷ª®í®∫ÿπ— 74
√ªŸ∑Ë’5.2 °≈‰°·≈–欓∏ ‘¿“æ„π‚√§ ITP 84
√ªŸ∑Ë’6.1 ≈°—…≥–°“√‡®√≠‘‡µ∫‘‚µ¢Õß infantile hemangioma ‡ª√¬’∫‡∑¬’∫°∫— vascular 92
√ªŸ∑Ë’6.2 malformation 98
√ªŸ∑’Ë7.1 Kaposiform hemangioendothelioma ∑‡’˪πì∫√‡‘«≥√–¬“ߧå 107
√ªŸ∑’Ë7.2 °“√∑”ß“π¢Õ߇°≈¥Á‡≈Õ◊¥µß—È·µàadhesion ®π∂ß÷platelet secretion 109
√ªŸ∑’Ë8.1 §«“¡º¥‘ª°µ¢‘Õß platelet aggregation study „π‚√§µ“àßÊ
°≈‰°°“√·¢ßÁµ«—¢Õ߇≈Õ◊¥„π·µ≈à–√–¬– 120
√ªŸ∑Ë’8.2 °“√°≈“¬æπ—∏ÿå¢Õß factor VII deficiency ∑æË’∫„πª√–‡∑»‰∑¬ 123
√ªŸ∑Ë’8.3 ‚§√ß √“âߢÕߺπß—‡¡¥Á‡≈Õ◊¥·¥ß ´ß÷˪√–°Õ∫¥«â¬ «àπª√–°Õ∫ 3 ™πÈ— ‰¥·â°àlipid 125
√ªŸ∑’Ë8.4 bilayer, transmembrane proteins ·≈– cytoskeletal network ‚ª√µπ’∑‡Ë’ªπì «àπ 127
√ªŸ∑’Ë8.5 ª√–°Õ∫À≈°—‰¥·â°àband 3, glycoprotein ·≈– glycophorin C (GPC) ª√–°Õ∫ 131
√ªŸ∑’Ë11.1 √«¡‡ªπì phospholipid bilayer 166
√ªŸ∑Ë’11.2  ‡¡¬’√‡å≈Õ◊¥„πºªŸâ«É¬‚√§ RBC membranopathy 172
√ªŸ∑Ë’11.3 °“√µ√«® eosin-5û-maleimide†(EMA) binding test „πºªâŸ«É¬°≈¡àÿ red blood 173
cell membrane defect
Anaerobic glycolysis pathway ·≈– antioxidant pathway ¢Õ߇¡¥Á‡≈Õ◊¥·¥ß
 ‡¡¬’√‡å≈Õ◊¥„πºªâŸ«É¬ RBC enzymopathy
Iron metabolism and absorption
°“√ √“âß·≈–°“√¥¥Ÿ´¡÷‚ø‡≈µ
°“√¥¥Ÿ´¡÷ °“√¢π ßà ·≈– cellular uptake ¢Õß «µ‘“¡π‘∫’12 (cobalamin)

20 ®—π∑√“¿“ »√ ’«— ¥‘Ï

Àπ“â

√ªŸ∑Ë’11.4  ‡¡¬’√‰å¢°√–¥°Ÿ¢ÕߺªŸâ«É¬ megaloblastic anemia æ∫ megaloblastoid change of 174
√ªŸ∑’Ë12.1 erythroid series, nuclear-cytoplasmic asynchrony ·≈– giant band neutrophils 181
√ªŸ∑Ë’12.2 °“¬«¿‘“§·≈–À≈Õ¥‡≈Õ◊¥ ”§≠—„π‚æ√ß®¡°Ÿ 181
√ªŸ∑Ë’12.3 ¿“«–‡≈Õ◊¥°”‡¥“ÕÕ°®“°¥“âπÀπ“â¢Õß‚æ√ß®¡°Ÿ(anterior epistaxis) 182
√ªŸ∑Ë’13.1 ¿“«–‡≈Õ◊¥°”‡¥“ÕÕ°®“°¥“âπÀ≈ß—¢Õß‚æ√ß®¡°Ÿ(posterior epistaxis) 192
√ªŸ∑’Ë13.2 °“√æ≤—π“¢Õ߉¢¿à“¬„π√ß—‰¢„àπ√Õ∫‡¥Õ◊πª°µ‘ 194
√ªŸ∑Ë’13.3 °≈‰°°“√‡°¥‘ª√–®”‡¥Õ◊π 201
√ªŸ∑Ë’13.4 ·∫∫ª√–‡¡π‘ª√¡‘“≥ª√–®”‡¥Õ◊π¥«â¬µπ‡Õß 202
√ªŸ∑’Ë13.5 «∏‘°’“√π∫—·µ¡â PBAC ¥«â¬µπ‡Õß 203
√ªŸ∑Ë’15.1 µ«—Õ¬“àß°“√ª√–‡¡π‘ª√¡‘“≥ª√–®”‡¥Õ◊π¥«â¬µπ‡Õß ‚¥¬„™âPBAC
A, T2-weighted MRI · ¥ß bilateral thalamic flow voids ¢ÕߺªŸâ«É¬ Moyamoya 228
√ªŸ∑’Ë15.2 disease. B, Angiogram · ¥ß≈°—…≥– near-complete occlusion of both posterior 229
√ªŸ∑Ë’18.1 cerebral arteries ·≈– collateral vessels ∑¡’Ë≈’°—…≥–∑‡’Ë√¬’°«“à çpuff of smokeé 264
√ªŸ∑Ë’18.2 T1-weighted MRI · ¥ß clot „π superior sagittal sinus ·≈– straight sinus 265
√ªŸ∑Ë’20.1 ¢ÕߺªŸâ«É¬ cerebral venous thrombosis 281
√ªŸ∑’Ë20.2 °“√∑”¬π’∫”∫¥—·∫∫ in vivo gene therapy 285
√ªŸ∑Ë’20.3 °“√∑”¬π’∫”∫¥—·∫∫ ex vivo gene therapy 285
√ªŸ∑Ë’20.4 °“√°≈“¬æπ—∏åÿ(mutation) ™π¥‘µ“àßÊ 286
√ªŸ∑Ë’20.5 ‡§√ÕË◊߇æ¡Ë‘ª√¡‘“≥ “√æπ—∏°ÿ√√¡ (DNA thermal cycler) 288
√ªŸ∑’Ë20.6 Õªÿ°√≥∑å„Ë’™„âπ°“√µ√«® gel electrophoresis ·≈– UV transilluminator 289
√ªŸ∑’Ë20.7 °“√µ√«®º≈º≈µ‘¢Õß PCR ¿“¬„µâUV transilluminator 291
√ªŸ∑Ë’20.8 Multiplex-ARMS  ”À√∫—µ√«®À“°“√°≈“¬æπ—∏¢åÿÕ߬π’ HBB ™π¥‘∑æ’Ë∫‰¥∫âÕଠ293
√ªŸ∑Ë’21.1 „πª√–‡∑»‰∑¬ 298
√ªŸ∑’Ë21.2 Direct DNA sequencing ¢Õß ¬π’ HBB (exon 1 ·≈– 2) „π compound 300
heterozygous β-thalassemia
Multiplex gap-PCR  ”À√∫—µ√«®À“ deletional α-thalassemia ∑æË’∫∫Õ଄π
ª√–‡∑»‰∑¬
°“√µ√«®À“°“√°≈“¬æπ—∏¢ÿåÕ߬π’ F8
‡Õ°´‡√¬§åÕ¡æ«‘‡µÕ√¢åÕß ¡Õß„πºªâŸ«É¬√“¬∑’Ë1 æ∫ hyperdensity lesion at left
temporal lobe (≈°Ÿ»√™)È’
‡Õ°´‡√¬§åÕ¡æ«‘‡µÕ√¢åÕß™Õàß∑Õâß æ∫¡’ascites, hepatosplenomegaly

Abnormal Bleeding 21

Àπ“â

√ªŸ∑Ë’21.3 º≈°“√µ√«® dihydrorhodamine (DHR) flow cytometry test 301
¢ÕߺªŸâ «É¬√“¬π·È’≈–¡“√¥“
301
√ªŸ∑Ë’21.4 º≈°“√µ√«®¬π’ CYBB æ∫°“√°≈“¬æπ—∏·ÿå∫∫ nonsense mutation ∑µË’”·Àπßà 304
c.676C>T „πºªâŸ«É¬√“¬∑Ë’1 ·≈–¬ß—æ∫°“√°≈“¬æπ—∏∑ÿåµË’”·Àπßà‡¥¬’«°π—„π¡“√¥“ 306
¢ÕߺªâŸ«É¬ 307
308
√ªŸ∑’Ë21.5 · ¥ßæß»“«≈¢’Õߧ√Õ∫§√«—ºªŸâ«É¬√“¬∑Ë’2 312
√ªŸ∑’Ë21.6  ‡¡¬’√‡å≈Õ◊¥¢ÕߺªŸâ«É¬·≈–§√Õ∫§√«—√“¬∑Ë’3 313
√ªŸ∑Ë’21.7 º≈°“√µ√«® eosin-5-maleimide †(EMA) binding test „πºªâŸ«É¬√“¬∑Ë’3
314
«π‘®‘©¬—‡ªπì Southeast Asian Ovalocytosis (SAO) 315
√ªŸ∑Ë’21.8  ‡¡¬’√‡å≈Õ◊¥¢ÕߺªâŸ«É¬√“¬∑Ë’4 æ∫¡’spherocyte 316
√ªŸ∑’Ë21.9  ‡¡¬’√‡å≈Õ◊¥¢ÕߺªâŸ«É¬√“¬∑Ë’5 æ∫¡’target cell
√ªŸ∑’Ë21.10 º≈°“√µ√«® hemoglobin typing ¢ÕߺªâŸ«É¬√“¬∑’Ë5 æ∫‡ªπìæ“À–‡∫µ“â-∏“≈ —‡¡¬’
√ªŸ∑Ë’21.11 º≈°“√µ√«® multiplex gap-PCR ¢ÕߺªŸâ«É¬ º≈∑‰Ë’¥¥âß—· ¥ß„π·∂«∑Ë’5 · ¥ß

„À‡âÀπÁ«“ສ⟫ɬ‡ªπì‚√§ Hb H disease ∑‡’Ë°¥‘®“°°“√¢“¥À“¬·∫∫ Southeast Asian
(--SEA)  ”À√∫—α-thal1 ·≈–°“√¢“¥À“¬·∫∫ rightward (-α3.7)  ”À√∫—α-thal2
√ªŸ∑Ë’21.12  ‡¡¬’√‡å≈Õ◊¥¢ÕߺªŸâ«É¬√“¬∑’Ë6 ∑¡Ë’¿’“«–‡°≈¥Á‡≈Õ◊¥µË”
√ªŸ∑’Ë21.13 º≈°“√µ√«® magnetic resonance imaging (MRI) brain ¢ÕߺªâŸ«É¬√“¬∑Ë’6

22 ®π—∑√“¿“ »√’ « —¥‘Ï

 “√∫≠— ·ºπ¿¡Ÿ‘

·ºπ¿¡Ÿ∑‘’Ë1.1 °≈‰°°“√‡°¥‘‚√§·≈–°“√√°—…“·∫∫„À¡„àπºªâŸ«É¬‡∫µ“â-∏“≈ —´‡’¡¬’ Àπ“â
·ºπ¿¡Ÿ∑‘’Ë2.1 ¢π—ȵÕπ°“√µ√«®«π‘®‘©¬—∑“√°„π§√√¿°åÕàπ§≈Õ¥∑‡Ë’ ¬Ë’ßµÕà Hb Bartûs hydrops 17
fetalis
·ºπ¿¡Ÿ∑‘’Ë3.1 ·π«∑“ß°“√„À§â ”ª√°÷…“∑“ßæπ—∏»ÿ“ µ√·å°¡à “√¥“∑ ’Ëß ¬—‡ªπì æ“À– 32
·ºπ¿¡Ÿ∑‘’Ë4.1 ·π«∑“ß°“√√°—…“ ITP „π‡¥°Á‚¥¬„™√â–¥∫—§«“¡√πÿ·√ߢÕß¿“«–‡≈Õ◊¥ÕÕ° 49
·ºπ¿¡Ÿ∑‘’Ë4.2 ·π«∑“ß°“√¥·Ÿ≈√°—…“ºªŸâ«É¬ ITP ™π¥‘‡√Õ◊È√ß—„π‡¥°Á 62
·ºπ¿¡Ÿ∑‘’Ë5.1 °“√·∫ßà¿“«–º¥‘ª°µ¢‘ÕßÀ≈Õ¥‡≈Õ◊¥·µ°à”‡π¥‘ (vascular anomalies) 68
·ºπ¿¡Ÿ∑‘’Ë5.2 °“√·∫ßàª√–‡¿∑¢Õß hemangioma 74
·ºπ¿¡Ÿ∑‘’Ë5.3 ·π«∑“ß°“√√°—…“ infantile hemangioma ¥«â¬¬“ propranolol 76
·ºπ¿¡Ÿ∑‘’Ë6.1 ·π«∑“ß°“√«π‘®‘©¬—ºªŸâ«É¬ inherited platelet disorder 82
·ºπ¿¡Ÿ∑‘Ë’7.1 ·π«∑“ß°“√«π‘®‘©¬—¿“«–º¥‘ª°µ¢‘Õß°“√·¢ßÁµ«—¢Õ߇≈Õ◊¥·µ°à”‡π¥‘„π‡¥°Á 100
·ºπ¿¡Ÿ∑‘Ë’12.1 ·π«∑“ß°“√¥·Ÿ≈ºªâŸ«É¬∑¡Ë’‡’≈Õ◊¥°”‡¥“ÕÕ° 115
·ºπ¿¡Ÿ∑‘’Ë13.1 ·π«∑“ß°“√«π‘®‘©¬—ºªâŸ«É¬∑¡Ë’‡’≈Õ◊¥ÕÕ°∑“ß™Õàߧ≈Õ¥ 185
·ºπ¿¡Ÿ∑‘Ë’14.1 ·π«∑“ß°“√«π‘®‘©¬—¿“«– deep vein thrombosis (DVT) ·≈– pulmonary 199
embolism (PE) „π‡¥°Á
·ºπ¿¡Ÿ∑‘’Ë14.2 ·π«∑“ß°“√„™âsystemic t-PA infusion protocol 214
·ºπ¿¡Ÿ∑‘’Ë15.1 °“√®”·π°‚√§À≈Õ¥‡≈Õ◊¥ ¡Õß„π‡¥°Á 221
·ºπ¿¡Ÿ∑‘’Ë15.2 ·π«∑“ß°“√√°—…“ CSVT „π‡¥°Á 225
·ºπ¿¡Ÿ∑‘Ë’15.3 ·π«∑“ß°“√√°—…“ AIS „π‡¥°Á 231
·ºπ¿¡Ÿ∑‘’Ë16.1 ·π«∑“ß°“√¥·Ÿ≈‡¡Õ◊ˇ°¥‘¿“«–·∑√°´Õâπ√–À«“àß°“√„À‡â≈Õ◊¥ 233
244

∫∑∑Ë’
‡∫µâ“-∏“≈— ´’‡¡’¬
ß-Thalassemia

1
™“≠™—¬ ‰µ√«“√’

°≈¡àÿÕ“°“√∏“≈ —´‡’¡¬’ (thalassemia syn- ¡’ºâŸªÉ«¬ ™π‘¥ homozygous β-thalassemia
dromes) ‡ªìπ‚√§‡≈◊Õ¥®“ß∑“ßæ—π∏ÿ°√√¡Õ—π‡π◊ËÕß 625 √“¬µÕà®”π«π‡¥°Á‡°¥‘„À¡à1 ≈“âπ§πµÕàªï·≈–
¡“®“°§«“¡º‘¥ª°µ‘¢Õß°“√ √â“ߌ’‚¡‚°≈∫‘π β-thalassemia/Hb E 3,250 √“¬ µÕà®”π«π‡¥°Á
(hemoglobin) ∑’˺‘¥ª°µ‘‡πË◊Õß®“° Œ’‚¡‚°≈∫‘π ‡°‘¥„À¡à1 ≈â“π§πµàժﵓ¡≈”¥—∫ ‡ªìπµâπ „π
‡°‘¥®“°Œ’¡ (heme) √«¡°—∫‚°≈∫‘π (globin) ∫∑πÈ’®–°≈“à«∂ß÷‚√§‡∫µ“â-∏“≈ —´‡’¡¬’‚¥¬®–°≈“à«∂ß÷
 ”À√—∫°≈àÿ¡Õ“°“√∏“≈— ´’‡¡’¬π—Èπæ∫«à“¡’°“√ √â“ß ≈°—…≥–∑“ßæπ—∏°ÿ√√¡·≈–§«“¡ ¡—æπ—∏¢åÕßæπ—∏°ÿ√√¡
polypeptide ≈¥≈ßÀ√Õ◊º¥‘ª°µ‘∑”„À¡â º‘’≈µÕà°“√ ·≈–§«“¡√ÿπ·√ߢÕß‚√§‡∫µâ“-∏“≈— ´’‡¡’¬∑’Ëæ∫∫àÕ¬
 √“âß globin πÕâ¬≈ß ·≈–À√Õ◊ √“âß globin ∑º’Ë¥‘ª°µ‘ „πª√–‡∑»‰∑¬ µ≈Õ¥®π°“√«‘π‘®©—¬·≈–°“√¥Ÿ·≈
‡ªìπº≈„À⇡Á¥‡≈◊Õ¥·¥ß¡’≈—°…≥–º‘¥ª°µ‘ ·≈– √°—…“‚√§‡∫µ“â-∏“≈ —´‡’¡¬’„πª®í®∫ÿπ—
¡’Õ“¬ÿ —Èπ ∏“≈— ´’‡¡’¬®÷ß·∫à߉¥â‡ªìπ 2 °≈ÿà¡„À≠à
µ“¡≈°—…≥–∑“ßæπ—∏°ÿ√√¡ (genotypic diagnosis) Õ≥æŸπ—∏ÿ»“ µ√¢åÕß‚√§‡∫µâ“-∏“≈— ´‡’¡¬’
§◊Õ ·Õ≈øÉ“-∏“≈— ´’‡¡’¬ (α-thalassemia) ·≈– °≈¡ÿà¢Õ߬π’ β-globin (β-globin gene clus-
‡∫µ“â-∏“≈ —´‡’¡¬’ (β-thalassemia) ∂“â¡°’“√ √“âß ter) Õ¬àŸ∫π·¢π¢â“ß È—π¢Õß‚§√‚¡‚´¡§Ÿà∑’Ë 11
‡ âπ·Õ≈øÉ“ (alpha) ≈¥≈ßÀ√◊Õ‰¡à √â“߇≈¬ ‡√’¬° (11p15.4) ª√–°Õ∫¥â«¬ 5 functional β-like
«à“ ·Õ≈øÉ“-∏“≈— ´’‡¡’¬ „π°√≥’∑Ë’ √â“߇ âπ‡∫µâ“ globin genes2, 3 ‡√¬’ß≈”¥∫—®“°¥“âπ 5′ ‰ª¥“âπ 3′
(beta) ≈¥≈ßÀ√Õ◊‰¡ à√“â߇≈¬ ‡√¬’°«“à ‡∫µ“â-∏“≈ — ‰¥·â°à¬π’ epsilon (ε, HBE), G-gamma (Gγ,
´’‡¡’¬ ‚√§‡∫µâ“-∏“≈— ´’‡¡’¬‡ªìπ‚√§∑Ë’‡°‘¥„π‡¢µ HBG2), A-gamma (Aγ, HBG1), delta (δ,
ª√–‡∑»√Õâπ™π◊ȇªπì  «àπ„À≠√à«¡∂ß÷ª√–‡∑»‰∑¬ ®“° HBD) ·≈– beta-globin (β, HBB) ∑”Àπâ“∑’Ë
°“√»÷°…“„πª√–‡∑»‰∑¬1 ¡’√“¬ß“πæ∫æ“À–‡ªìπ  √“âß “¬‚ª√µπ’ ε-, γ-, δ- ·≈– β-globin µ“¡≈”¥∫—
‡∫µâ“-∏“≈— ´’‡¡’¬ (β-thalassemia) √âÕ¬≈– 3-9 ª√–°Õ∫¥â«¬°√¥Õ–¡‘‚π 146 µ”·Àπàß ‚¥¬ “¬
·≈–æ“À– Hemoglobin E (Hb E) √Õâ¬≈– 8-60 ‚ª√µπ’ β ·≈– δ-globin ¡°’√¥Õ–¡‚‘π·µ°µ“àß°π—
æ∫‰¥â¡“° ÿ¥∑“ß¿“§µ–«—πÕÕ°‡©’¬ß‡Àπ◊Õ √âÕ¬≈– 10 µ”·Àπßà  “¬‚ª√µπ’ β ·≈– γ-globin ¡°’√¥
25 ¢Õߺ⟪ɫ¬°≈ÿà¡πÈ’‡ªìπ‚√§∏“≈— ´’‡¡’¬™π‘¥√πÿ·√ß Õ–¡‘‚π·µ°µà“ß°—π 39 µ”·Àπàß ·≈– “¬‚ª√µ’π
∂÷ߪ“π°≈“ß §◊Õ homozygous β-thalassemia γ-globin ¡’2 ™π¥‘ ‰¥·â°àGγ ·≈– Aγ ‚¥¬¡°’√¥Õ–
·≈– β-thalassemia/Hb E ‚¥¬§“¥°“√≥å«à“®– ¡‚‘πµ”·Àπßà∑’Ë136 ‡ªπì glycine ·≈– alanine µ“¡

2 ™“≠™—¬ ‰µ√«“√’

≈”¥∫— ™«àß∑∑’Ë“√°Õ¬„Ÿàπ§√√¿¡å“√¥“∑ßÈ—¬π’ Gγ ·≈–¬π’ mutation) ´ßË÷ “¡“√∂·∫ßà‰¥µâ “¡µ”·Àπßà¢Õß°“√
Aγ ®–∑”Àπ“â∑ ’Ë√“âß “¬‚ª√µπ’ γ-globin ‡¡ÕË◊√«¡ °≈“¬æπ—∏ÿ凙πà °“√°≈“¬æπ—∏„ÿåπµ”·Àπßà promo-
°∫— “¬‚ª√µπ’ α-globin ‡ªπì Hb F (α2γ2) ´ßË÷‡ªπì tor region ®–∑”„À°â√–∫«π°“√ transcription ‡°¥‘
functional hemoglobin ∑¡’˧’«“¡ “¡“√∂„π°“√®∫— ‰¥≈â¥≈ß ‰¥·â°à§«“¡º¥‘ª°µÕ‘¬∑Ÿà µ’Ë”·Àπßà TATA
2,3 DPG ‰¥πâ Õ⬠À≈ß—®“°∑∑Ë’“√°‰¥§â≈Õ¥ÕÕ°¡“ box ´ßË÷‡ªπìµ”·Àπßà∑¡’˧’«“¡ ”§≠—„π°“√‡√¡Ë‘µπâ¢Õß
°“√∑”ß“π¢Õß Gγ ·≈– Aγ ®–≈¥≈ß „π¢≥–∑’ˬ’π transcription ‡™πà nt-28(A> G), nt-31(A> G),
β-globin ‡√Ë‘¡∑”ß“π‡æË‘¡¢È÷π ∑”„Àâ√–¥—∫ Hb F nt-87(C> A) À√Õ◊°“√°≈“¬æπ—∏∑åÿµ’Ë”·Àπßà cap site
≈¥≈ß·≈–√–¥∫— Hb A ‡æ¡Ë‘¡“°¢πÈ÷·≈–‡ªπì func- ‡™πà nt+1(A> C) ‡ªπì µπâ
tional hemoglobin À≈—°¢Õ߇¡Á¥‡≈◊Õ¥·¥ßÀ≈—ß  ”À√∫—°“√°≈“¬æπ—∏∑åÿ∑Ë’”„À‡â°¥‘§«“¡º¥‘ª°µ‘
Õ“¬ÿ6 ‡¥Õ◊π ·≈–¡√’–¥∫—„°≈‡â§¬’ß°∫—º„âŸÀ≠‡à¡Õ◊ËÕ“¬ÿ ¢Õß°√–∫«π°“√ mRNA processing ‰¥·â°à
48  ª—¥“ÀÀå √Õ◊ª√–¡“≥ 1 ªïµ“¡∑‰Ë’¥·â ¥ß‰«„âπ 1. Splice junction mutation ∂â“¡’°“√
√Ÿª∑’Ë1.1  à«π¬’π δ-globin ∑”Àπâ“∑Ë’ √â“ß “¬ ‡ª≈’ˬπ·ª≈ߢÕ߇∫ ∑Ë’5′ donor site À√◊Õ 3′
‚ª√µπ’ α-globin „πª√¡‘“≥πÕ⬠‡¡Õ◊Ë√«¡°∫— “¬ acceptor site ∑ªË’°µ®‘–¡‡’∫ ‡ªπì GT ·≈– AG µ“¡
‚ª√µ’π α-globin ‡ªìπ Hb A2 (α2δ2) ∑” ≈”¥∫— ∑”„À¡â°’“√ inactivation ¢Õß splice site ππ—È
„À â¥— «àπ¢Õß Hb A2 ¡ª’√¡‘“≥πÕ⬇¡Õ◊ˇ∑¬’∫°∫— ·≈–‡°‘¥ splicing (µ—¥ intron) ‰¡à‰¥â„π√–À«à“ß
ª√‘¡“≥ Hb A (α2β2) ∑Ë’‡°‘¥®“°°“√√«¡µ—«°—π °√–∫«π°“√ mRNA splicing µ—«Õ¬à“ß∑’Ëæ∫„π
¢Õß “¬‚ª√µπ’ α-globin ·≈– β-globin ª√–‡∑»‰∑¬‰¥â·°à IVS-I-1(G> T) ∑’Ë∑”„À⇰‘¥
β0-thalassemia
°“√°≈“¬æ—π∏åÿ¢Õß‚√§‡∫µâ“-∏“≈— ´’‡¡’¬„π 2. Splice-site consensus sequence mu-

ª√–‡∑»‰∑¬ tation ‡ªìπ°“√°≈“¬æ—π∏ÿå∑’ˇ°‘¥„°≈â°—∫µ”·Àπàß

‚√§‡∫µâ“-∏“≈— ´’‡¡’¬ (β-thalassemia) ¡’ splice-site ´ßË÷‡ªπì µ”·Àπßà∑ Ë’”§≠— ”À√∫— splicing
 “‡Àµÿ®“°°“√°≈“¬æ—π∏ÿå¢Õ߬’π β-globin ·≈–¡’ ‚¥¬≈”¥—∫‡∫ ¥—ß°≈à“«®–¡’Õ¬àŸ‡À¡◊ÕπÊ °—π„π∑ÿ°Ê
º≈∑”„Àâ¡’°“√ √â“ß “¬‚ª√µ’π β-globin ≈¥≈ß species ‡√¬’°«“à çconsensus sequenceé ∂“⇰¥‘
À√Õ◊‰¡ à√“â߇≈¬  “¡“√∂·∫ßà‰¥‡âªπì 2 ™π¥‘4 ‰¥·â°à °“√°≈“¬æπ—∏„ÿåπµ”·Àπßà¥ß—°≈“à«®–∑”„Àâsplicing
β0-thalassemia À¡“¬∂ß÷ ‡¡Õ◊Ë¡°’“√°≈“¬æπ—∏·åÿ≈«â „πµ”·ÀπàßπÈ—π‡°‘¥‰¥âπâÕ¬°«à“ª°µ‘ À√◊ÕÕ“®®–„™â
®–‰¡¡à°’“√ √“âߢÕß “¬‚ª√µπ’ β-globin ‡≈¬ ·≈–
β+-thalassemia À¡“¬∂÷ß ‡¡Ë◊Õ¡’°“√°≈“¬æ—π∏ÿå µ”·ÀπßàÕπË◊∑¡Ë’≈’”¥∫—‡∫ „°≈‡â§¬’ß°π—‡°¥‘‡ªπì cryp-
tic splice site „À¡àµ«—Õ¬“à߇™πà IVS-I-5(G> C)
·≈⫬—ß “¡“√∂ √â“ß “¬‚ª√µ’π β-globin ‰¥â„π ∑Ë’æ∫„πª√–‡∑»‰∑¬·≈–∑”„À⇰‘¥ β+(severe)-
ª√‘¡“≥∑Ë’≈¥≈ß ‚¥¬§«“¡º‘¥ª°µ‘∑’Ëæ∫„π¬’π β- thalassemia
globin „πªí®®ÿ∫—πæ∫‰¥âª√–¡“≥ 250 ™π‘¥ ´Ë÷ß¡’ 3. Internal IVS À√◊Õ intron mutation
º≈∑”„À‡â°¥‘Õ“°“√· ¥ß∑“ߧ≈π‘°‘∑·’˵°µ“àß°π— „π
ª√–‡∑»‰∑¬ «àπ„À≠æà ∫‡ªπì β0-thalassemia °“√ ‡ªπì °“√°≈“¬æπ—∏„ÿåπ intron ·≈–∑”„À‡â°¥‘ cryptic
splice site „À¡à∑”„Àªâ√¡‘“≥¢Õß mRNA ª°µ≈‘¥≈ß
°≈“¬æπ—∏¢ÿåÕ߬π’ β-globin ∑∑’Ë”„À‡â°¥‘‡∫µ“â-∏“≈ —  ”À√—∫„πª√–‡∑»‰∑¬°“√°≈“¬æ—π∏ÿå„π intron ∑Ë’
´‡’¡¬’ «àπ„À≠®à–‡ªπì °“√°≈“¬æπ—∏‡ÿå©æ“–∑Ë’(point æ∫‰¥∫â Õଠ‰¥·â°àIVS-II-654 (C> T) ∑∑Ë’”„À‡â°¥‘

‡∫µâ“-∏“≈ —´’‡¡¬’ ß-Thalassemia 3

β0-thalassemia ‚ª√µ’π β-globin ∑Ë’ ¡∫Ÿ√≥剥â(nonfunctional
4. Coding sequence mutations affect mRNA)  «àπ„À≠‡à°¥‘‰¥®â“° 3 °≈‰° ‰¥·â°ànon-
splicing À¡“¬∂ß÷ °“√°≈“¬æπ—∏„åÿπ exon ∑¡’˺’≈ sense mutation, frameshift mutation ·≈–
µÕà°“√‡°¥‘ splicing ‚¥¬∑”„À‡â°¥‘ cryptic splice initiation codon mutation °“√°≈“¬æπ—∏™ÿåπ¥‘πÈ’
site „À¡à∑”„À≥âmRNA ∑’˺‘¥ª°µ‘·≈–¡’º≈ ∑æË’∫∫Õ଄πª√–‡∑»‰∑¬5 ‰¥·â°àcodon 17 (A> T)
∑”„À â√“âß “¬‚ª√µπ’ β-globin ≈¥≈߇°¥‘‡ªπì β+- À√Õ◊ codon 35 (C> A) ∑‡Ë’ªπì nonsense mutation
thalassemia µ«—Õ¬“à߇™πà Hb E ·≈– Hb Malay ∑Ë’ ·≈– codon 41/42 (-TCTT) À√Õ◊ codon 71/72
‡°¥‘®“°§«“¡º¥‘ª°µ„‘πµ”·Àπßà codon 26 (G> A) (+A) ∑‡Ë’ªπì frameshift mutation ‡ªπì µπâ ‚¥¬‰¥â
·≈– codon 19 (A> G) µ“¡≈”¥∫— ‡ªπì µπâ ¡°’“√»°÷…“„πºªŸâ «É¬‡¥°Á∑‡Ë’ªπì ‚√§‡∫µ“â-∏“≈ —´‡’¡¬’6
 ”À√∫—°“√°≈“¬æπ—∏∑åÿ∑’Ë”„À‡â°¥‘§«“¡º¥‘ª°µ‘ ®”π«π 80 √“¬ „πÀπ૬‚≈À‘µ«‘∑¬“ °Õß°ÿ¡“√
¢Õß°√–∫«π°“√ mRNA translation ππ—È ‡ªπì °“√ ‡«™°√√¡ √.æ.æ√–¡ß°Æÿ‡°≈“â ∑µ’Ë√«®æ∫ codon 17
°≈“¬æπ—∏∑ÿå ∑’Ë”„À‡â°¥‘ mRNA ∑‰’Ë¡ à“¡“√∂ √“âß “¬ (A> T) √âÕ¬≈– 26.1 IVS-I-5(G> C) √âÕ¬≈– 8

√âÕ¬≈–¢Õß‚°≈∫‘π∑ßÈ—À¡¥

√ªŸ∑Ë’1.1 ≈°—…≥–¢Õ߬π’ β-globin ·≈–°“√ √“âß “¬‚ª√µπ’‚°≈∫π‘„π·µ≈à–™«àßÕ“¬§ÿ√√¿å(¢Õâ¡≈Ÿ
®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 2, 3 ·≈–√ªŸÕÕ°·∫∫‚¥¬ π“¬‡Õ°æ߻奫âßÕπ‘∑√)å

µ“√“ß∑’Ë1.1 ≈°—…≥–°“√°≈“¬æπ—∏¢ÿåÕß‚√§‡∫µ“â-∏“≈ —´‡’¡¬’„π‡¥°Á„πª√–‡∑»‰∑¬ (√«∫√«¡¢Õâ¡≈Ÿ®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 6, 8-10) 4 ™“≠™¬— ‰µ√«“√’

°“√»°÷…“ ¿¡Ÿ¿‘“§ ®”π«πºªŸâ«É¬‡¥°Á °≈¡àÿºªŸâ«É¬∑»’Ë °÷…“ °“√°≈“¬æπ—∏¢åÕ߇∫µ“â-∏“≈ —´‡’¡¬’∑æ’Ë ∫‰¥â
(√“¬) ¡“°∑ Ë’¥ÿ 4 Õπ—¥∫—·√° (√Õâ¬≈–)

Laosombat ·≈–§≥– „µâ 78 β-thal/E, codon 41/42 (-TCTT) 32.0, IVS-I-5 (G> C) 22.3,
β-thal major, codon 19 (A> G) 11.7, codon 17 (A> T)10.7
Nuntakarn ·≈–§≥– µ–«π—ÕÕ°‡©¬’߇ÀπÕ◊ 148 β-thal trait
Charoenkwan ·≈–§≥– ‡ÀπÕ◊ 80 codon 41/42 (-TCTT) 52.0, codon 17 (A> T) 23.0
Boonyawat ·≈–§≥– °≈“ß 80 β-thal/E codon 71/72 (+A) 6.7, IVS-II-654 (C> T) 5.4
β-thal/E
β-thal/E, codon 41/42 (-TCTT) 53.8, codon 17 (A> T) 33.8
β-thal major, codon 71/72 (+A) 3.8, IVS-I-5 (G> C) 2.5
β-thal trait
codon 41/42 (-TCTT) 37.5, codon 17 (A> T) 26.1,
IVS-I-5 (G> C) 8.0, IVS-II-654 (C> T) 6.8

β-thal major = homozygous β-thalassemia/heterozygous β-thalassemia, β-thal trait =β-thalassemia trait, β-thal/E = β-thalassemia/Hb E

‡∫µ“â-∏“≈ —´’‡¡¬’ ß-Thalassemia 5

IVS-II-654 (C> T) √âÕ¬≈– 6.8 ·≈– IVS-I-1 ‡≈Õ◊¥·¥ß„π‰¢°√–¥°Ÿ‰¡¡àª’√– ∑‘∏¿‘“æÀ√Õ◊∑‡Ë’√¬’°«“à
(G> T) √âÕ¬≈– 4.5 µ“¡≈”¥—∫ Õ¬à“߉√°Áµ“¡°“√ ineffective erythropoiesis ´÷Ëß®–¡’º≈°√–∑∫
°≈“¬æ—π∏ÿå∑Ë’æ∫‰¥â∫àÕ¬∑’Ë ÿ¥„π°“√»÷°…“πÈ’ ‰¥â·°à ¥ß—µÕà‰ªπ2’È, 11
codon 41/42 (-TCTT) ∑æË’∫‰¥ âߟ∂ß÷√Õâ¬≈– 37.5 1. °“√¢¬“¬¢Õ߉¢°√–¥°Ÿ·≈–‚√§∑“ß°√–¥°Ÿ
 Õ¥§≈Õâß°∫—°“√»°÷…“°ÕàπÀπ“âπ7È’ ∑æË’∫°“√°≈“¬ (bone marrow expansion and bone disease)
æ—π∏ÿå™π‘¥πÈ’∑Ë’æ∫‰¥â∫àÕ¬∑Ë’ ÿ¥„πª√–‡∑»‰∑¬‡™àπ°—π ‡πÕË◊ß®“°‰¢°√–¥°ŸµÕâß∑”ß“πÕ¬“àßÀπ°— ‡æÕË◊
´ßË÷≈°—…≥–¢Õß codon 41/42 (-TCTT) ‡ªπì °“√ ®– √â“߇¡Á¥‡≈◊Õ¥‡æ‘Ë¡¢÷Èπ∑”„À⇰‘¥°“√¢¬“¬µ—«¢Õß
°≈“¬æ—π∏åÿ™π‘¥ frameshift ‡°‘¥®“°°“√¢“¥À“¬ ‚æ√߉¢°√–¥°Ÿ ‚¥¬®–‡ÀπÁ‰¥™â¥—‡®π∫√‡‘«≥°–‚À≈°
(deletion) ¢Õß𑫧≈’‚Õ‰∑¥å4 bp ¡’º≈„Àâ°“√ »√…’–·≈–„∫Àπ“â√«¡∂ß÷‚Àπ°·°¡â∑ Ë’ߟ¢πÈ÷¥ßÈ—®¡°Ÿ¬∫ÿ
Õ“àπ√À —‡ª≈¬Ë’π‰ª‡°¥‘‡ªπì β0-thalassemia ‡√¬’°≈°—…≥–„∫Àπ“â·∫∫π«È’“àÀπ“ⵓ·∫∫∏“≈ —´‡’¡¬’
πÕ°®“°ππ—ȬߗՓ®æ∫°“√°≈“¬æπ—∏∑ÿ凒˰¥‘®“° (thalassemia facies) πÕ°®“°π—Èπ®–¡’°“√
°“√¢“¥À“¬¢π“¥„À≠à(large deletion) ´÷Ë߇ªì𠇪≈’ˬπ·ª≈ߢÕß°√–¥Ÿ°„πºâŸªÉ«¬∏“≈— ´’‡¡’¬‚¥¬¡’
§«“¡º¥‘ª°µ∑‘æ’Ë∫‰¥‰â¡∫à Õଠ‚¥¬Õ“®¡°’“√¢“¥À“¬ §«“¡ —¡æ—π∏å‚¥¬µ√ß°—∫°“√ √â“߇¡Á¥‡≈◊Õ¥·¥ß
‡æ’¬ß∫“ß à«πÀ√◊Õ∑È—ß exon ∑”„À≡ࠓ¡“√∂ √â“ß ¢Õ߉¢°√–¥Ÿ° (erythropoiesis) °≈à“«§◊Õ„π
mRNA ‰¥â‡°‘¥‡ªìπ β0-thalassemia ‡™àπ °“√ ¿“«–ª°µ‘°√–¥Ÿ°®–¡’°“√ ≈“¬°√–¥Ÿ°‡°à“·≈– √â“ß
¢“¥À“¬¢π“¥ 619 bp (619 bp deletion) „π °√–¥Ÿ°„À¡à·µà ”À√—∫ºŸâªÉ«¬∏“≈— ´’‡¡’¬∑Ë’¡’¿“«–
µ”·Àπßà 3′ ¢Õ߬π’ β-globin ‡ªπì µπâ  ”À√∫—°“√ ‡≈◊Õ¥®“ß¡“°®–¡’°“√‡√àß √â“߇¡Á¥‡≈◊Õ¥·¥ß®“°
°≈“¬æ—π∏åÿ·∫∫πÈ’∑Ë’¡’√“¬ß“π„πª√–‡∑»‰∑¬ ‰¥â·°à ‰¢°√–¥Ÿ°‡æ‘Ë¡¢È÷π¡“°°«à“§πª°µ‘ ∑”„Àâ‚æ√ß
°“√¢“¥À“¬¢π“¥ 3.4 kb (3.4 kb deletion) À√Õ◊ °√–¥Ÿ°¢¬“¬µ—«¡“°¢È÷π·≈– à«π¢Õß cortex ¢Õß
°“√¢“¥À“¬¢π“¥ 105 bp (105 bp deletion) °√–¥°Ÿ∫“ß≈ß∑”„À¡â«≈°√–¥°Ÿ∫“ß≈ß(osteoporosis)
‡ªìπµâπ  ”À√—∫√“¬≈–‡Õ’¬¥¢Õß™π‘¥¢Õß°“√°≈“¬ ·≈–°√–¥°Ÿº¥‘√ªŸ (bone deformity) µ“¡¡“
æ—π∏ÿå¢Õ߇∫µâ“-∏“≈— ´’‡¡’¬¢Õߺ⟪ɫ¬‡¥Á°·≈–«—¬√àÿπ 2. °“√‡æ¡Ë‘°“√∑”ß“π„π√–∫∫ reticuloen-
„πª√–‡∑»‰∑¬„π·µà≈–¿Ÿ¡‘¿“§6, 8-10 ‰¥â√«∫√«¡ dothelial (extramedullary hematopoiesis)
‰«µâ “¡µ“√“ß∑’Ë1.1 ‡¡Ë◊Õ‰¢°√–¥Ÿ°‰¡à “¡“√∂ √â“߇¡Á¥‡≈◊Õ¥·¥ß
∑Ë’¡’ª√– ‘∑∏‘¿“æ‡æ’¬ßæÕ®÷ß®”‡ªìπµâÕßÕ“»—¬Õ«—¬«–
欓∏°‘”‡π¥‘¢Õß‚√§‡∫µ“â-∏“≈ —´‡’¡¬’ πÕ°‰¢°√–¥Ÿ°™à«¬ √â“߇¡Á¥‡≈◊Õ¥·¥ß‡æË‘¡¢÷Èπ‡√’¬°

Õ¬à“ß∑’Ë∑√“∫°—π¥’«à“‚√§∏“≈— ´’‡¡’¬®–æ∫«à“ «“à extramedullary hematopoiesis ®ß÷∑”„Àµâ∫—‚µ
¡°’“√ √“âß polypeptide ≈¥≈ßÀ√Õ◊º¥‘ª°µ‘∑”„Àâ (hepatomegaly) ·≈–¡“â¡‚µ (splenomegaly) „π
¡º’≈µÕà°“√ √“âß globin πÕâ¬≈ß „π°√≥∑’‡’˪πì ‡∫µ“â- °√≥∑’¡’Ë“â¡‚µ¡“° Õ“®∑”„À‡â°¥‘ ¿“«–∑¡Ë’°’“√°”®¥—
∏“≈— ´’‡¡’¬ ®–¡’°“√ √â“߇ âπ‡∫µâ“≈¥≈ßÀ√◊Õ‰¡à À√◊Õ∑”≈“¬‡¡Á¥‡≈◊Õ¥‚¥¬¡â“¡ (hypersplenism)
√â“߇≈¬ (β-globin chain imbalance) ∑”„Àâ ´ßË÷ºªâŸ«É¬µÕâß√∫—°“√„À‡â≈Õ◊¥∫ÕଢÈ÷π ¡â“¡¡’¢π“¥‚µ
‡ πâ ·Õ≈ø“É®∫—°π—‡Õ߇ªπì α4 (unstable α-globin ¡“°¢È÷π πÕ°®“°πÈ—πÕ“®¡’º≈µàÕ‰¢°√–¥Ÿ°∫√‘‡«≥
chain tetramers) ·≈–µ°µ–°Õπ„π‡¡Á¥‡≈◊Õ¥ °√–¥Ÿ° —πÀ≈—ß (para-vertebral) ∑”„À⇰‘¥°âÕπ
·¥ß¿“¬„π‰¢°√–¥Ÿ° ®÷ß∑”„Àâ¢∫«π°“√ √â“߇¡Á¥ ‰¢°√–¥Ÿ° (pseudotumor) „π™àÕ߉¢ π—À≈ß—·≈–

6 ™“≠™¬— ‰µ√«“√’

°¥∑∫—‰¢ π—À≈ß— (spinal cord) ∑”„À‡â°‘¥Õ—¡æ“µ  ”À√∫—º≈„π√–¬–¬“«Õ“®∑”„Àºâ ªŸâ «É¬∑¡Ë’¿’“«–‡≈Õ◊¥
(paraplegia) ‰¥â ®“߇√È◊Õ√—ß (chronic hemolytic anemia) ¡’°“√
3. §«“¡º¥‘ª°µ„‘π°“√·¢ßÁµ«—¢Õ߇≈Õ◊¥·≈– ‡®√‘≠‡µ‘∫‚µ™â“·≈–π”ÈÀπ—°µ—«πâÕ¬°«à“ª°µ‘´÷Ë߇°‘¥
À≈Õ¥‡≈Õ◊¥ (hypercoagulable state and vascular ®“°°“√‡¡Á¥‡≈◊Õ¥·¥ßπ”ÕÕ°´‘‡®π‰ª‡≈’Ȭ߇π◊ÈÕ‡¬◊ËÕ
disease) µà“ßÊ ≈¥≈ß ∑”„Àâ°“√‡®√‘≠‡µ‘∫‚µ¢Õ߇π◊ÈÕ‡¬Ë◊Õ
‚¥¬ºªâŸ«É¬∑¡Ë’¿’“«– ineffective erythropoie- µ“àßÊ º¥‘ª°µ‘
sis ®–¡’°“√· ¥ßÕÕ°¢Õß phosphatidylserine πÕ°®“°π—Èπ°“√∑Ë’√à“ß°“¬µâÕ߇√àß √â“߇¡Á¥
∫πº«‘¢Õ߇¡¥Á‡≈Õ◊¥·¥ß¥“âππÕ°®–‰ª°√–µπÿâ°“√·¢ßÁ ‡≈◊Õ¥·¥ß·≈–°”®—¥‡¡Á¥‡≈◊Õ¥·¥ß∑Ë’º‘¥ª°µ‘ÕÕ°‰ª
µ«—¢Õ߇≈Õ◊¥ (prothrombotic state) πÕ°®“°ππÈ— ∑”„À⇰‘¥¿“«– hypermetabolism ´Ë÷߇ªìπªí®®—¬
¬ß—æ∫«“ສŸâ«É¬°≈¡àÿπ®È’–¡°’“√≈¥≈ߢÕß nitric oxide ‡ √‘¡∑’Ë∑”„Àâ°“√‡®√‘≠‡µ‘∫‚µ™â“°«à“ª°µ‘∑—Èßπæ’È∫«“à
(NO) ∑”„ÀâÀ≈Õ¥‡≈◊Õ¥À¥µ—«¡“°¢’Èπ ´÷Ëß∑”„À⠺⟪ɫ¬∑Ë’¡’¿“«–‡≈◊Õ¥®“߇√◊ÈÕ√—ß®–¡’º≈°√–∑∫µàÕ
ºªŸâ«É¬‚√§∏“≈ —´‡’¡¬’¡§’«“¡‡ ¬’ËßµÕà°“√‡ªπì ≈¡‘ˇ≈Õ◊¥ ¢∫«π°“√ ineffective erythropoiesis „Àâ·¬à≈ß
Õ¥ÿµπ—„πÀ≈Õ¥‡≈Õ◊¥¥” (deep vein thrombosis) ‰¥‡â™πà °π— ∑ßÈ—π„È’πºªŸâ «É¬‡∫µ“â-∏“≈ —´‡’¡¬’®– “¡“√∂
·≈–¿“«–≈‘Ë¡‡≈◊Õ¥Õÿ¥µ—π„πÀ≈Õ¥‡≈◊Õ¥·¥ß„πªÕ¥ æ∫§«“¡º¥‘ª°µ¢‘Õß∑ßÈ—2 ¢∫«π°“√ §Õ◊ ineffective
(pulmonary embolism) ‡æ¡Ë‘¢πÈ÷ erythropoiesis ·≈– peripheral hemolysis ‰¥‡â∑“àÊ
4. ¿“«–‡À≈°Á‡°π‘ (iron overload) °π—  ”À√∫—§«“¡√πÿ·√ß¡“°πÕ⬷§‰àÀπ¢π÷È°∫—™π¥‘
¿“«–‡À≈Á°‡°‘π∑Ë’πÕ°‡Àπ◊Õ®“°°“√„Àâ‡≈◊Õ¥ ¢Õß°“√°≈“¬æπ—∏∑åÿ®’Ë–‰¥°â≈“૵Õà‰ª
®”π«π¡“°Õ“®‡°‘¥®“°¢∫«π°“√ ineffective
erythropoiesis ∑Ë’‰ª¡’º≈µàÕ°√–∫«π°“√¥Ÿ¥ Õ“°“√·≈–§«“¡√πÿ·√ߢÕß‚√§‡∫µ“â-∏“≈ —´‡’¡¬’
´÷¡¢Õ߇À≈Á°‚¥¬ŒÕ√å‚¡π∑’ˇ√’¬°«à“ hepcidin ´÷Ëß ß-thalassemia ™π¥‘ ß0/ß0, ß0/ß+ À√Õ◊ß+/ß+
 √“âß®“°µ∫— ¢∫«π°“√π®’È–‰ª¬∫—¬ßÈ—°“√ √“âߌÕ√‚å¡π ‡ªìπ‚√§∏“≈— ´’‡¡’¬∑Ë’¡’Õ“°“√√ÿπ·√ß·≈–¡’
µ«—π∑È’”„À¡â°’“√¥¥Ÿ´¡÷¢Õ߇À≈°Á‡æ¡‘Ë¡“°¢πÈ÷°«“રµ‘ Õ“°“√µßÈ—·µÕà“¬πÿÕ⬠ “‡Àµ‡ÿ°¥‘®“°°“√°≈“¬æπ—∏ÿå
∑≈Ë’”‰ â∑”„Àºâ ªŸâ«É¬‚√§∏“≈ —´‡’¡¬’‡À≈“àπ¡È’¿’“«–‡À≈°Á ·∫∫ β0/β0, β0/β+ À√Õ◊ β+/β+ ‚¥¬ºªâŸ«É¬∑¡Ë’°’“√
‡°π‘‰¥â·¡«â“à‰¡‰à¥„âÀ‡â≈Õ◊¥∫ÕରµÁ“¡ °≈“¬æπ—∏·åÿ∫∫ β0/β0 (homozygous β-thalas-
πÕ°‡ÀπÕ◊®“°¢∫«π°“√ ineffective eryth- semia)‡ªπì‚√§∏“≈ —´‡’¡¬’∑¡’˧’«“¡√πÿ·√ß¡“°∑‡Ë’√¬’°
ropoiesis ∑Ë’°≈à“«¡“·≈â«¢â“ßµâπÕ’°ª√–‡¥Áπ∑Ë’¡’ thalassemia major (TM) ºŸâªÉ«¬°≈ÿà¡π’ȇ¡◊ËÕ·√°
§«“¡ ”§—≠§◊Õ °“√∑’ˇ¡Á¥‡≈◊Õ¥·¥ß‰¡à ¡∫Ÿ√≥å·∫∫ ‡°‘¥ª°µ‘¥’‰¡à¡’Õ“°“√· ¥ß∑“ߧ≈‘π‘° ¡—°®–‡√‘Ë¡
·≈–∂Ÿ° √â“ßÕÕ°‰ª„π°√–· ‡≈◊Õ¥∑”„À⇡Á¥‡≈◊Õ¥ ¡’Õ“°“√‡≈◊Õ¥®“ß µ—∫¡â“¡‚µµ—Èß·µàÕ“¬ÿª√–¡“≥ 6
·¥ßÕ“¬ÿ —Èπ·≈–∂Ÿ°∑”≈“¬‰¥âßà“¬ (peripheral ‡¥Õ◊π∂ß÷ 1 ªïÕ“°“√‡≈Õ◊¥®“ß®–§Õଡ“°¢πÈ÷‡√ÕË◊¬Ê
hemolysis) ´÷Ëߺ≈®“°°“√·µ°∑”≈“¬¢Õ߇¡Á¥ ∂â“¡’Õ“°“√‡≈◊Õ¥®“߇√Á«‡¡Ë◊ÕÕ“¬ÿπâÕ¬®–¡’Õ“°“√∑“ß
‡≈Õ◊¥·¥ß∑”„À‡â°¥‘ bile pigment ¡“°·≈–°≈“¬‡ªπì §≈π‘°‘·≈–°“√¥”‡ππ‘‚√§√πÿ·√ß ∫¥‘“¡“√¥“Õ“® ß—‡°µ
pigment stone „π∂ÿßπÈ”¥’·≈–‡ªìππË‘«„π∂ÿßπ”È¥’ ‡ÀÁπ«à“ºâŸªÉ«¬‡®√‘≠‡µ‘∫‚µ™â“ ‡∫◊ËÕÕ“À“√ πÈ”Àπ—°‰¡à
(gall stone) „π∑Ë’ ÿ¥  à«π„À≠à‰¡à¡’Õ“°“√· ¥ß §Õଇæ¡Ë‘ Õ“°“√‡≈Õ◊¥®“ß®–¡“°¢πÈ÷‡√ÕË◊¬Ê ∫“ß√“¬
∑“ߧ≈‘π‘° Õ“®¡’Õ“°“√ª«¥∑âÕß„µâ™“¬‚§√ߢ«“ ¡’∑âÕß‚µ¢È÷π·≈–Õ“®§≈”æ∫°âÕπ„π∑âÕß´Ë÷ßÕ“®‡ªìπ

‡∫µ“â-∏“≈ —´’‡¡’¬ ß-Thalassemia 7

µ∫—À√Õ◊¡“â¡ „π™«àß·√°®–¬ß—‰¡æà ∫°“√‡ª≈¬Ë’π·ª≈ß HbE ®”π«π 63 √“¬ æ∫¡’≈—°…≥–¢ÕßÕ“°“√
¢Õß°√–¥Ÿ°¡“°π—° √Ÿª√à“ßÀπ⓵“¬—ߧ߇ªìπª°µ‘ ·≈–º≈¢Õß°“√µ√«®‡≈◊Õ¥·µ°µà“ß°—π‰ªµ—Èß·µàTI
 à«π„À≠àÕ“°“√®–™—¥‡®π‡¡Ë◊ÕÕ“¬ÿª√–¡“≥ 3-4 ªï ®π∂ß÷°≈¡àÿ TM µ«—Õ¬“à߇™πà „π°√≥∑’‡Ë’ªπì com-
°“√»÷°…“·≈–√“¬ß“π¢Õß Àπ૬‚≈À‘µ«‘∑¬“ °Õß pound heterozygotes ¢Õß IVS-I-5(G> C)
°¡ÿ“√‡«™°√√¡ √.æ. æ√–¡ß°Æÿ‡°≈“â12 æ∫«“à ºªŸâ «É¬ ´ßË÷∑”„À‡â°¥‘ abnormal splicing „π IVS-1 ·≈–
„π°≈ÿà¡π’È®–¡’Õ“¬ÿ‡©≈’ˬ∑’Ë· ¥ßÕ“°“√„π™à«ß 0.8 ± exon 1 ¢Õ߬’π‡∫µâ“∑”„Àâ √â“߇ âπ‡∫µâ“πâÕ¬¡“°
0.49 ªï·≈–®“°°“√µ¥‘µ“¡µßÈ—·µÕà“¬∑ÿ·’Ë ¥ßÕ“°“√ ‡¡Õ◊Ë¡“√«¡°∫— Hb E ®ß÷∑”„À‡â°¥‘Õ“°“√· ¥ß∑“ß
∂÷ßªí®®ÿ∫—𠇪ìπ√–¬–‡«≈“ 11.83 ± 2.19 ªï‚¥¬ §≈‘π‘°∑Ë’√ÿπ·√ß (TM) °“√µ√«®‡≈◊Õ¥æ∫«à“Œ’‚¡-
ºŸâªÉ«¬ à«π„À≠à√âÕ¬≈– 71.4 ‰¥â√—∫°“√µ—¥¡â“¡ ‚°≈∫π‘¡§’“à‡©≈¬Ë’ 7.58 ± 1.42 °./¥≈. Œ¡’“‚µ§√µ‘
‡πÕË◊ß®“°¡¿’“«– hypersplenism æ∫«“à√Õâ¬≈– 75 ¡§’“à‡©≈¬’Ë√Õâ¬≈– 23.33 ± 3.43 §“à‡©≈¬’Ë¢Õß MCV
°“√‡®√‘≠‡µ‘∫‚µ®–Õ¬àŸ„π‡°≥±åπâÕ¬°«à“ percentile (mean corpuscular volume) 59.83 ± 8.07 fL
∑Ë’3  ”À√∫—°≈¡ÿà§π∑‡Ë’ªπì ‚√§‡∫µ“â-∏“≈ —´‡’¡¬’™π¥‘ ·≈–§à“‡©≈Ë’¬¢Õß MCH (mean corpuscular
∑¡Ë’°’“√°≈“¬æπ—∏·ÿå∫∫ β0/β+ (compound hetero- hemoglobin) 20.72 ± 2.79 pg ™π¥‘¢Õߌ‚’¡‚°≈∫π‘
zygosity β-thalassemia) ¡—°®–‡√Ë‘¡¡’Õ“°“√‡¡◊ËÕ ª√–°Õ∫¥«â¬ Hb E √«¡∑ßÈ— Hb A2 ‡©≈¬Ë’√Õâ¬≈–
Õ“¬ÿª√–¡“≥ 1-3 ªï‚¥¬°“√°≈“¬æ—π∏åÿπ’È∂◊Õ‡ªìπ 52.43 ± 15.54 Hb F ‡©≈¬’Ë√Õâ¬≈– 31.9 ± 23.46
TM ‡À¡Õ◊π°π—  ”À√∫—„π°≈¡àÿ β+/β+ (homozy- ‚¥¬ºâŸªÉ«¬„π°≈àÿ¡πÈ’®–¡’Õ“°“√·≈–Õ“°“√· ¥ß∑“ß
gous β-thalassemia) ®–‡ªìπ°≈ÿà¡∑Ë’¡’Õ“°“√ª“π §≈π‘°‘∑™’Ë¥—‡®π¢Õß‚√§∏“≈ —´‡’¡¬’¡°’“√‡®√≠‘‡µ∫‘‚µ™“â
°≈“ß thalassemia intermedia (TI) Õ¬“à߉√°µÁ“¡ µ—∫¡â“¡‚µ Àπ⓵“‡ªìπ·∫∫∏“≈— ´’‡¡’¬‰¥â ∂Ⓣ¡à
√–¥∫—§«“¡√πÿ·√ߢÕß‚√§Õ“®¢πÈ÷°∫—ª®í®¬—Õ¬“àßÕπ◊Ë∑Ë’ ‰¥â°“√√—∫‡≈◊Õ¥À√◊Õ°“√ √—°…“∑Ë’‡À¡“– ¡ À√◊Õ„π
®–‰¥°â ≈“૵Õà ‰ª °√≥∑’‡’˪πì compound heterozygotes ¢Õß codon
19 (A> G) ·≈ Hb E ´÷Ëß¡’§«“¡º‘¥ª°µ‘√–¥—∫
ß-thalassemia ™π‘¥ ß0/ßE À√◊Õ ß+/ßE (ß- ‚¡‡≈°≈ÿ∑∑Ë’”„À‡â°¥‘ abnormal splicing ∑Ë’∫√‘‡«≥
thalassemia/Hb E) cryptic donor site ¢Õß exon 1 ¢Õ߬π’‡∫µ“â°®Á–

‡¥Á°∑’ˇªìπ‚√§∏“≈— ´’‡¡’¬°≈àÿ¡πÈ’‡°‘¥®“°°“√ ¡Õ’“°“√· ¥ß·∫∫ TI  ”À√∫—√“¬≈–‡Õ¬’¥¢Õß™π¥‘
°≈“¬æπ—∏·ÿå∫∫ β0/βE À√Õ◊ β+/βE ‚¥¬ “¬‚ª√µπ’ ¢Õß°“√°≈“¬æ—π∏ÿå·≈–º≈µ√«®∑“ßÀâÕߪؑ∫—µ‘°“√
‡∫µâ“∑’Ë √â“ߢÈ÷π‡ªì𠓬‚ª√µ’π‡∫µâ“º‘¥ª°µ‘∑’Ë∑”„Àâ „π‚√§ β thalassemia/Hb E ‰¥ â√ªÿ‰«µâ“¡µ“√“ß∑’Ë
‡°¥‘‡ªπì Hb E √«à¡°∫— “¬‚ª√µπ’ β-globin ≈¥≈ß 1.2 ®– ß—‡°µ‰ÿ¥«â“àÕ“°“√¢ÕߺªŸâ «É¬ β thalassemia/
À√◊Õ‰¡à √â“߇≈¬ ‡¡◊ËÕ Õß¿“«–¡“√«¡°—π®÷ß∑”„Àâ¡’ Hb E ®–æ∫≈°—…≥–µßÈ—·µÕà“°“√‡≈Õ◊¥®“߇≈°ÁπÕâ¬
Õ“°“√· ¥ß∑“ߧ≈‘π‘°∑’Ë·µ°µà“ß°—π‰ª ‚¥¬°“√ À√Õ◊¡Õ’“°“√Õ¬„àŸπ°≈¡àÿ TI ®π∂ß÷°≈¡àÿ TM ´ßË÷¢π’È
»°÷…“¢ÕßÀπ«à¬‚≈Àµ‘«∑‘¬“ °Õß °¡ÿ“√‡«™°√√¡ √.æ. Õ¬°Ÿà∫—ª®í®¬—À≈“¬Õ¬“àß´ßË÷®–‰¥°â≈“૵Õà‰ª
æ√–¡ß°Æÿ‡°≈“â12 ‰¥√â“¬ß“πºªŸâ «É¬ β-thalassemia/

µ“√“ß∑’Ë 1.2 §«“¡ ¡—æπ—∏√å–À«“àß™π¥‘¢Õß°“√°≈“¬æπ—∏·ÿå≈–º≈µ√«®∑“ßÀÕâߪØ∫‘µ—°‘“√„πºªŸâ «É¬ β-thalassemia/HbE (‰¥√â∫—°“√Õπ≠ÿ “µ≈ߵ撡‘æå 8 ™“≠™¬— ‰µ√«“√’
·≈–¥¥—·ª≈ߢâÕ¡≈Ÿ®“° Traivaree C. Journal of blood medicine. 2018;9:35-41. ‡Õ° “√Õâ“ßÕ‘ßÀ¡“¬‡≈¢ 12)

codon 41/42 codon 17 IVS-I-5 IVS-II-654 codon 35 codon 3.4 kb codon 19 nt-28 IVS-1-I
(-TCTT) (A> T) (G> C) (C> T) (C> A) 71/72 deletion (A> G) or (A> G) (G> T)

(+A) Hb Malay

®”π«πºªŸâ «É¬ 28 12 6 5 3 1 2 1 14
(√“¬) 27 3 1 2 - -3
§«“¡√ÿπ·√ß 1 12 6 5 - - - 1 11
3.28±2.73 - - - 1.87±1 1.8 1.6 0.6 5 8.55±5.79
TM (√“¬) 7.48±1.24 2.33±2.38 5.4±6.52 2.74±2.62 8.17±1.1 8.3 9.9±0.71 8.9 8.2 8.13±0.34
TI (√“¬) 22.92±3.46 7.83±1.38 7.58±1.42 7.94±0.65 25.63±4.38 26 29.45±0.64 26.7 24.9 25.5±1.48
Õ“¬∑ÿ’‡Ë√¡‘Ë´¥’ (ªï) 23.88±4.19 23.33±3.43 23.72±3.71
Hb (g/dL)
HCT (%)
MCV (fL) 63.56±6.74 59.83±8.07 62.15±8.66 67.48±3.41 58.9±1.95 62.5 59.55±2.19 54.4 64.5 64.3±2.71
MCH (pg) 20.87±3.06 20.13±2.76 20.72±2.79 22.36±0.58 23.6±7.97 20 19.8±1.98 18.1 21.2 20.48±1.36
Hb E (+A2) (%) 40.28±19.12 43.41±20.65 52.43±15.54 42.3±14.34 46.63±2.07 37.4 38.95±7.99 45.8 46.8 51.07±11.96
Hb F (%) 46.31±23.82 45.08±12.47 31.9±23.46 51.4±14.6 47.4±6.67 53.5 54.75±0.92 15.9 35.8 45.17±11.68

TM = thalassemia major, TI = thalassemia intermedia, Hb = hemoglobin, HCT = hematocrit, MCV = mean corpuscular volume, MCH = mean corpuscular
hemoglobin

‡∫µ“â-∏“≈— ´‡’¡¬’ ß-Thalassemia 9

µ“√“ß∑Ë’1.3 ™π¥‘¢Õß°“√°≈“¬æπ—∏°ÿå∫—™π¥‘¢Õß β0-thalassemia ·≈– β+-thalassemia (¥¥—·ª≈ߢÕâ¡≈Ÿ®“°
‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 12, 14)

≈°—…≥–·≈–µ”·Àπßà¢Õß°“√°≈“¬æπ—∏姫“¡√πÿ·√ß µ«—Õ¬“àß∑æË’∫‰¥â

Point mutations β+ nt-28(A> G), nt-87(C> A)
Transcription β+ nt+1 (A> C)
Promoter region β0 IVS-I-1 (G> T)
Cap site IVS-I-5 (G> C)
mRNA processing β0 or β+ ATG> ATA
Splice junction codon 35 (C> A), codon 17 (A> T)
Splice site β0 codon 41/42 (-TCTT)
mRNA translation β0 619 bp deletion,3.4 kb deletion
Initiation codon β0
Nonsense codon β0
Frameshift

Deletions
Large deletion

ª®í®¬—∑¡’Ë º’≈µÕ৫“¡√πÿ·√ߢÕß‚√§ ß-thalas- ¡“à-‚°≈∫π‘ (γ-globin chain)  ßŸ¢πÈ÷∑”„À¡â ’Hb F
semia (genetic modifiers)13 „π°≈¡àÿπªÈ’√–°Õ∫¥«â¬  ßŸ¢π÷È ‰¥·â°àpolymorphism ∑µË’”·Àπßà BCL11A
1. °≈¡àÿ∑¡’ËÕ’“°“√√πÿ·√ß¡“°¢πÈ÷ ‰¥·â°à ∫π‚§√‚¡‚´¡§Ÿà∑’Ë2, polymorphism ∑’˵”·Àπàß
1.1 ™π¥‘¢Õß β0-thalassemia14 µ“¡™π¥‘ °H“B√¡S1°’L≈-“¬MæYπ—B∏åÿÀ™π√Õ◊¥‘MKYLBF1∫1π5 ‚√§«à√¡‚¡¥‚«â´¬¡‡§ª∑ŸàπìË’µ6 πâ·≈–
¢Õß°“√°≈“¬æπ—∏„å𠵓√“ß∑’Ë1.3
1.2 °√≥’∑Ë’ºâŸªÉ«¬¡’¬’π∑’Ë∑”„Àâ°“√ √â“ß “¬
‚ª√µπ’ α-globin∑¡’Ë“°°«“રµ‘‡™πà ®“°§πª°µ∑‘¡’Ë’ ·π«∑“ß°“√«‘π‘®©—¬‚√§‡∫µâ“-∏“≈— ´’‡¡’¬·≈–
genotype ·∫∫ αα/αα µ“¡ª°µ°‘≈“¬‡ªπì ααα/ °“√µ√«®À“æ“À–„π‚√§‡∫µâ“-∏“≈— ´‡’¡¬’16
αα, ααα/ααα À√Õ◊ αααα/αα ‡ªπì µπâ  ”À√∫—ºªŸâ «É¬‡¥°Á∑ ’Ëß ¬—«“à‡ªπì ‚√§‡∫µ“â-∏“≈ —
2. °≈¡àÿ∑¡Ë’Õ’“°“√√πÿ·√ß≈¥≈ß ‰¥·â°à ´‡’¡¬’®–¡º’≈°“√µ√«®‡≈Õ◊¥¥ß—π’È
2.1 ™π¥‘¢Õß β+-thalassemia14 µ“¡™π¥‘ 1. °“√µ√«®‡≈Õ◊¥ complete blood count
¢Õß°“√°≈“¬æπ—∏„å𠵓√“ß∑Ë’1.3 (CBC) ·≈– peripheral blood smear (PBS) À√Õ◊
2.2 °√≥∑’¡’Ë°’“√ √“âß “¬‚ª√µπ’ α-globin ∑’Ë  ‡¡¬’√‡å≈Õ◊¥
≈¥≈ß∑Ë’‡ªìπ‚√§À√◊Õ‡ªìπæ“À–·Õ≈øÉ“-∏“≈— ´’‡¡’¬ ®–æ∫≈°—…≥–‡¡¥Á‡≈Õ◊¥·¥ßµ¥‘ ®’“ß (hypo-
√«à¡¥«â¬8 ‡™πà -α/αα °∑Á”„ÀÕâ“°“√≈¥≈߉¥â chromia) ¢π“¥‡≈°Á (microcytic) ·≈–æ∫ target
2.3 °√≥’∑’Ë¡’°“√ √â“ߢÕß‚ª√µ’π™π‘¥·°¡ cell µ“¡√ªŸ∑’Ë1.2 (°.) ‚¥¬µÕâß·¬°®“°¿“«–¢“¥‡À≈°Á

10 ™“≠™—¬ ‰µ√«“√’

2. ¥™—π‡’¡¥Á‡≈Õ◊¥·¥ß (red cell indices) ´ß÷Ë µ“¡√Ÿª∑’Ë1.2 (¢. ·≈– ß.) ·≈– “¡“√∂µ√«®À“
ª√–°Õ∫¥«â¬ MCV (mean corpuscular volume) æ“À–‡∫µ“â-∏“≈ —´‡’¡¬’ ´ßË÷®–¡§’“à Hb A2 ¡“°°«“à
·≈– MCH (mean corpuscular hemoglobin) √Õâ¬≈– 3.5 µ“¡√ªŸ∑Ë’1.2 (§.)
‡ªìπ§à“∑’˵√«®«—¥‚¥¬„™â‡§√Ë◊Õß«‘‡§√“–À凡Á¥‡≈◊Õ¥ Õ¬à“߉√°Áµ“¡¥â«¬À≈—°°“√∑’Ë·µ°µà“ß°—π¢Õß
Õµ—‚π¡µ—‘‚¥¬®–¡§’“à MCV < 80 fL ·≈–¡§’“à MCH ‡§√◊ËÕßµ√«®«‘‡§√“–Àå·µà≈–™π‘¥Õ“®∑”„À⌒‚¡‚°
< 27 pg ∑È—ß„π‚√§‡∫µâ“-∏“≈— ´’‡¡’¬·≈–æ“À–„π ≈∫‘π™π‘¥‡¥’¬«°—π‡§≈Ë◊Õπ∑Ë’„πµ”·Àπàß∑Ë’µà“ß°—π
‚√§‡∫µ“â-∏“≈ —´‡’¡¬’ ≈—°…≥–°“√√“¬ß“πº≈·≈–≈”¥—∫°“√‡√’¬ßµ—«¢Õß
3. °“√µ√«®«‘‡§√“–Àå™π‘¥¢Õߌ’‚¡‚°≈∫‘π Œ’‚¡‚°≈∫‘π·µà≈–™π‘¥®“°‡§√◊ËÕß¡◊Õ·µà≈–À≈—°°“√
(hemoglobin typing) ´÷Ëß¡’°“√µ√«®«‘‡§√“–Àå Õ“®·µ°µà“ß°—π‰¥â‡™à𠇧√Ë◊Õß HPLC ®–√“¬ß“π
™π¥‘¢Õߌ‚’¡‚°≈∫π‘¥«â¬°π—À≈“¬«∏‘’‡™πà capillary Hb E „πµ”·Àπà߇¥’¬«°—∫ Hb A2 ‡§√◊ËÕß CE
electrophoresis (CE), high performance  “¡“√∂·¬° Hb A2 ·≈– Hb E ÕÕ°®“°°—π
liquid chromatography (HPLC) ·≈– low ‰¥â ®÷ß√“¬ß“π™π‘¥·≈–ª√‘¡“≥¢Õߌ’‚¡‚°≈∫‘π∑È—ß
pressure liquid chromatography (LPLC) ‡ªπìµπâ 2 ™π‘¥ ·¬°®“°°—π  à«π‡§√◊ËÕß LPLC  “¡“√∂
‡æÕË◊‡ªπì °“√µ√«®¬π◊¬π— (definite diagnosis) ´ß÷Ë ·¬°µ”·Àπàß Hb A2 ·≈– Hb E ‰¥â∫“ß°√≥’
 “¡“√∂µ√«®«¥—ª√¡‘“≥ Hb A2, Hb E, Hb F ·≈– ‡∑“àππÈ— ‡ªπì µπâ
Hb A ‡æË◊Õ®”·π°™π‘¥¢Õß‚√§‡∫µâ“-∏“≈— ´’‡¡’¬

√ªŸ∑Ë’1.2 ≈°—…≥–¢Õß ‡¡¬’√‡å≈Õ◊¥ ·≈–º≈ hemoglobin typing
„πºªâŸ«É¬‡∫µ“â-∏“≈ —´‡’¡¬’·µ≈à–™π¥‘‚¥¬«∏‘’capillary electrophoresis (CE)

‡∫µâ“-∏“≈ —´’‡¡’¬ ß-Thalassemia 11

°“√„À‡â≈Õ◊¥„π‚√§‡∫µ“â-∏“≈ —´‡’¡¬’„πª√–‡∑»‰∑¬ LDPRC ®–≈¥®”π«π‡¡Á¥‡≈◊Õ¥¢“«‰¥â¡“°°«à“
transfu°s“i√o√n°—-…d“e„pπe‚n√§d‡e∫nµt “â-th∏a“l≈a —s´se‡’¡m¬’ia®–(‡TªDπì ·T∫)∫2 ´Ë÷ß “¡“√∂ªÑÕß°—π°“√‡°‘¥¿Ÿ¡‘µâ“π∑“πµàÕ‡¡Á¥‡≈◊Õ¥
f‡ªusπìi on«à-πd„Àep≠eàn¡d ’en«àtπtπhÕâa¬la∑s®Ë’se–m‡ªiπìa·(∫N∫TDnoTn)-1t7ra·n∫s-ßà ¢“«‰¥â Õ¬à“߉√°Áµ“¡„πªí®®ÿ∫—π‰¡à·π–π”„ÀℙⰓ√
°√Õߢ≥–„À‡â≈Õ◊¥ (bedside filtration) ‡πÕË◊ß®“°
Õ“®∑”„À§â «“¡¥π—‚≈Àµ‘µ”ˉ¥â
µ“¡≈—°…≥–¢Õߺ⟪ɫ¬∏“≈— ´’‡¡’¬∑’Ë®”‡ªìπµâÕß„Àâ 3. §«√µ√«®À¡‡àŸ≈Õ◊¥ minor group rMediacµelßÈ—l
‡≈◊Õ¥ ·≈–‰¡à “¡“√∂Õ¬àŸ‰¥â∂Ⓣ¡à‰¥â√—∫‡≈◊Õ¥‡ªìπ antigen ª√–°Õ∫¥«â¬ C, c, E, e, Lewis,
ª√–®” ´÷Ëß®–¡’Õ“°“√‡™àπ Õ“°“√‡≈◊Õ¥®“ß°àÕπÕ“¬ÿ ·µà°àÕπ„Àâ‡≈◊Õ¥§√È—ß·√° ‡π◊ËÕß®“°ºâŸªÉ«¬°≈ÿà¡πÈ’µâÕß
2 ªïÀ√Õ◊Œ‚’¡‚°≈∫π‘µ”Ë°«“à 7 °./¥≈. ¡µ’∫—¡“â¡‚µ ‰¥â√—∫‡≈◊Õ¥∫àÕ¬·≈–Õ“®¡’ªí≠À“°“√À“‡≈◊Õ¥‰¥â¬“°
‡ªìπµâπ ‚¥¬∑°’Ë“√„À‡â≈Õ◊¥∂Õ◊‡ªπì°“√√°—…“¡“µ√∞“π ‡æ√“–¡·’Õπµ∫‘Õ¥µ’Õà minor blood group °≈¡ÿà
∑ Ë’”§≠—„πºŸâªÉ«¬°≈ÿà¡π’È„π°≈àÿ¡ TDT πÈ’‡ªÑ“À¡“¬ π’È ”À√—∫„π°√≥’∑’˺ŸâªÉ«¬æ—≤π“·Õπµ‘∫Õ¥’®“°°“√
¢Õß°“√„Àâ‡≈◊Õ¥®–µâÕßπ—¥ºâŸªÉ«¬¡“„Àâ‡≈◊Õ¥‡ªìπ „Àâ‡≈◊Õ¥∑’Ë¡’·Õ𵑇®π∫π‡¡Á¥‡≈◊Õ¥·¥ßÀ≈“¬™π‘¥¡“
ª√–®”∑°ÿ 3-4  ª—¥“Àå„πª√¡‘“≥ 10-15 ¡≈./°°. „π¿“¬À≈—ß µâÕß欓¬“¡À“‡≈◊Õ¥∑’ˉ¡à¡’·Õ𵑇®π
µÕà§√ßÈ—‡æÕË◊√°—…“√–¥∫—Œ‚’¡‚°≈∫π‘¢ÕߺªŸâ«É¬„À âߟ°«“à ‡À≈“àππÈ—
9-10 °./¥≈.18 À√Õ◊∑‡’Ë√¬’°«“à regular transfusion 4. ‡æÕË◊ªÕÑß°π—¿“«–febrile non-hemolytic
´ß÷Ë®–‡ªπì √–¥∫—∑∑Ë’”„Àºâ ªâŸ«É¬‡¥°Á‡®√≠‘ ‡µ∫‘‚µ‰¥Õ⬓àß transfusion reaction (FNHTR) ·≈–ºπ◊Ë„π√–À«“àß
ª°µ‘¡’§ÿ≥¿“æ™’«‘µ∑’Ë¥’ „™â™’«‘µª√–®”«—π‰¥âµ“¡ À√◊ÕÀ≈—ß°“√„Àâ‡≈◊Õ¥ ‰¥â¡’°“√»÷°…“·∫∫ rando-
ª°µ‘ ·≈–ªÑÕß°—π°“√‡°‘¥Àπ⓵“·∫∫∏“≈— ´’‡¡’¬ mized, double-blinded, placebo-controlled
(thalassemia facies) ¡“â¡°®Á–‰¡‚ൠ®ß÷‰¡®à”‡ªπì study21 ‰¥√⓬ߓπºªâŸ«É¬∏“≈ —´‡’¡¬’®”π«π 147 √“¬
µâÕßµ—¥¡â“¡„πÕ𓧵 ·µà„π√–¬–¬“«®–¡’¿“«– ∑‰’Ë¥√â∫—°“√„Àâchlorpheniramine ·≈– paracetamol
‡À≈Á°‡°‘π ´÷Ëß®–‰¥â°≈à“«µàÕ‰ª  ”À√—∫„π°√≥’ À√Õ◊¬“À≈Õ°°Õàπ„À‡â≈Õ◊¥ 30 π“∑-’1 ™«Ë—‚¡ß æ∫
NTDT πÈ—π®–‡ªìπ°“√„Àâ‡≈◊Õ¥‡ªìπ§√ȗߧ√“« À√◊Õ∑Ë’ Õ∫ÿµ—°‘“√≥¢åÕß FNHTR „π°≈¡ÿà∑‰’Ë¥âparacetamol
‡√’¬°°—π«à“ occasional transfusion  “¡“√∂æ∫ ‡∑“à°∫—√Õâ¬≈– 6.9 ·≈– æ∫√Õâ¬≈– 9.5 „π°≈¡ÿà∑‰’Ë¥â
‰¥â„πºŸâªÉ«¬·Õ≈øÉ“-∏“≈— ´’‡¡’¬ ´Ë÷ß¡—°®–„Àâ‡≈◊Õ¥ ¬“À≈Õ° ®ß÷‰¡¡à§’«“¡·µ°µ“àßÕ¬“àß¡π’¬— ”§≠—∑“ß ∂µ‘‘
‡¡◊ËÕ¡’Õ“°“√‡≈◊Õ¥®“ß®“°°“√µ‘¥‡™◊ÈÕÀ√◊Õ¡’°“√‡®√‘≠ Õ¬“à߉√°Áµ“¡æ∫«à“¡’Õÿ∫—µ‘°“√≥å¢ÕߺË◊π∑’ˇ°‘¥¢’Èπ„π
‡µ∫‘‚µµ”Ë°«“à‡°≥±å‚¥¬√°—…“√–¥∫—Œ‚’¡‚°≈∫π‘¢Õß √–À«à“ß°“√„Àâ‡≈◊Õ¥À√◊Õ¿“¬„π 24 ™—Ë«‚¡ßÀ≈—ß„Àâ
ºªâŸ«É¬ „À âߟ°«“à 7 °./¥≈.19 ‡≈◊Õ¥æ∫¡’§«“¡·µ°µà“ßÕ¬à“ß¡’π—¬ ”§—≠∑“ß ∂‘µ‘
 ”À√—∫§ÿ≥ ¡∫—µ‘¢Õ߇≈◊Õ¥·≈–°“√„Àâ‡≈◊Õ¥ ‚¥¬æ∫«à“°≈ÿà¡∑’ˉ¥â√—∫ chlorpheniramine æ∫
·°ºà ªŸâ «É¬∏“≈ —´‡’¡¬’§«√ª√–°Õ∫¥«â¬20 º◊Ëπ‡æ’¬ß√âÕ¬≈– 22 „π¢≥–∑Ë’°≈àÿ¡∑’ˉ¥â¬“À≈Õ°æ∫
1. º≈‘µ¿—≥±å‡≈◊Õ¥§«√‡ªìπ‡≈◊Õ¥∑’Ë∫√‘®“§ º◊Ëπ∂’ß√âÕ¬≈– 35.2 ¥—ßπÈ—π°“√«‘®—¬§√È—ßπ’È √ÿª‰¥â«à“
„À¡Êà À√Õ◊Õ“¬‰ÿ¡‡à°π‘ 14 «π— °“√„Àâparacetamol Õ“®®–‰¡¡à ª’√–‚¬™π∑å ®Ë’–ªÕÑ ß°π—
2. º“àπ°√–∫«π°“√≈¥®”π«π‡¡¥Á‡≈Õ◊¥¢“« FNHTR ®“°°“√„Àâ‡≈◊Õ¥„πºâŸªÉ«¬∏“≈— ´’‡¡’¬
≈ß ‰¥·â°àleukocyte-poor PRC (LPRC) À√Õ◊ ·µà°“√„Àâchlorpheniramine Õ“®™à«¬≈¥º◊Ëπ‰¥â
leukocyte-depleted PRC (LDPRC) ´ß÷Ë°“√„™â Õ¬“à߉√°µÁ“¡„π°√≥∑’º’˪⟫ɬ¡Õ’“°“√‰¢¢â≥–„À‡â≈Õ◊¥

12 ™“≠™¬— ‰µ√«“√’

§«√æ‘®“√≥“À¬ÿ¥°“√„Àâ‡≈◊Õ¥ ·≈–µâÕߪ√–‡¡‘π 2. ºªâŸ«É¬‰¥√â∫—‡≈Õ◊¥‡ªπìª√–®”Õ¬“àß ¡”ˇ ¡Õ
—≠≠“≥™’æ ·≈–§«√„Àâ paracetamol ·≈– ‡°π‘ 1 ªï
chlorpheniramine ∂⓺ŸâªÉ«¬Õ“°“√‰¡à¥’¢÷Èπ§«√ 3. ‰¥âPRC ¡“·≈⫪√–¡“≥ 10-20 §√È—ß
π°÷∂ß÷¿“«– hemolytic transfusion reaction À√Õ◊ ‚¥¬‡©≈¬Ë’
°“√µ¥‘‡™ÕÈ◊·∫§∑‡’√¬’®“°°“√„À‡â≈Õ◊¥ 4. √–¥—∫‡À≈Á°„π°“√∑” MRI (T2*) > 7
¡°.‡À≈°Á/°√¡—πÈ”Àπ°—‡πÕ◊ȵ∫—·Àßâ
¿“«–‡À≈°Á ‡°π‘·≈–°“√„À¬â“¢∫—‡À≈°Á „πª√–‡∑»‰∑¬ ‡ªÑ“À¡“¬¢Õß°“√√—°…“§◊Õ„Àâ√–¥—∫ ferritin

‚¥¬ª°µ‘ºŸâªÉ«¬∏“≈— ´’‡¡’¬¡’‡À≈Á°‡°‘π®“° Õ¬àŸª√–¡“≥ 500-1,000 π°./¡≈. À√◊Õ MRI
‡≈Õ◊¥∑„’ËÀâ‚¥¬æ∫«“à 1 ¡≈. ¢Õ߇¡¥Á‡≈Õ◊¥·¥ß®–¡’ (T2*) 1.8-7 ¡°.‡À≈Á°/°√—¡π”ÈÀπ—°‡πÈ◊Õµ—∫·Àâß
ª√¡‘“≥‡À≈°Á 1.16 ¡°. ª√–°Õ∫°∫—°“√‰¥√â∫—‡À≈°Á  ”À√∫—¢Õâ∫ßà™„’Èπ°“√„À¬â“¢∫—‡À≈°Á„πºªŸâ «É¬ NTDT
®“°Õ“À“√∑Ë’¥¥Ÿ´÷¡∑“ß≈”‰ â¥—ßπ—Èπ„πºâŸªÉ«¬∏“≈— - ®–„™â„π°√≥’√–¥—∫ ferritin  Ÿß°«à“ 800 π°./¡≈.
´’‡¡’¬∑’Ë¡’‡À≈Á°‡°‘π§«√‰¥â√—∫¬“¢—∫‡À≈Á°‚¥¬‡©æ“– ‚¥¬‡ª“ÑÀ¡“¬¢Õß°“√√°—…“§Õ◊‡æÕ◊Ë„À√â–¥∫— ferritin
ºâŸªÉ«¬∑’ˉ¥â√—∫ regular transfusion æ∫«à“°“√ Õ¬ªŸà √–¡“≥ 300-800 π°./¡≈. ·≈–殑“√≥“À¬¥ÿ
‰¥â√—∫¬“¢—∫‡À≈Á°Õ¬à“ß ¡”ˇ ¡Õ·≈–‡æ’¬ßæÕ®–∑” ¬“„π°√≥∑’√Ë’–¥∫— ferritin πÕ⬰«“à 300 π°./¡≈.19
„Àºâ ªŸâ «É¬¡‡’À≈°Á‡°π‘‰¡¡à “°·≈–¡§’≥ÿ ¿“晫’µ‘∑¥’Ë¢’π÷È „πªí®®ÿ∫—π¡’¬“¢—∫‡À≈Á° (iron chelation)
·≈–Õ“¬ÿ¬◊π¢÷Èπ ‡πË◊Õß®“°ª√‘¡“≥‡À≈Á°∑Ë’‡°‘π (iron 3 °≈ÿà¡ ∑’Ë„™â„π¿“«–‡À≈Á°‡°‘π„πºâŸªÉ«¬∏“≈— ´’‡¡’¬
overload) ®–°Õà„À‡â°¥‘º≈√“⬵ÕàÕ«¬—«–µ“àßÊ ‰¥·â°à ´÷Ë߉¥â∫√√®ÿÕ¬àŸ„π∫—≠™’¬“À≈—°·Ààß™“µ‘·≈– “¡“√∂
À«—„® µ∫— µ∫—ÕÕà𠇪πì µπâ „™â„π ‘∑∏‘ª√–°—π ÿ¢¿“浓¡¢âÕ∫àߙȒ‚¥¬¬“∑È—ß 3
 ”À√∫—°“√µ√«®√–¥∫—‡À≈°Á„π√“àß°“¬ “¡“√∂ °≈¡ÿà ª√–°Õ∫¥«â¬
∑”‰¥â‚¥¬°“√µ√«®‡≈◊Õ¥¥Ÿ√–¥—∫ ferritin ∂â“√–¥—∫ ¬“ deferoxamine (DFO)24
ferritin ¡“°°«à“ 1,000 π°./¡≈.∂◊Õ«à“¡’ª√‘¡“≥ §ÿ≥ ¡∫‡ª—µì𑮬—∫“‡À¢≈—∫Á°‡À„π≈√Á°Ÿª∑¢’Ë¡Õ’ªß √f–e rr‘∑ic∏‘¿ir“oæn∑’Ë¥(F’‚¥e3¬+¡)’
‡À≈Á°‡°‘π ´÷Ë߇ªìπ«‘∏’∑’Ëπ‘¬¡‡πË◊Õß®“° –¥«°·≈–
ª√–À¬—¥ ·µàÕ“®®–¡’§«“¡·ª√ª«π„π°√≥’∑√Ë’–¥∫— „πÕ—µ√“ à«π 1:1 ´÷Ë߇À≈Á°„π√à“ß°“¬∑Ë’¬“ DFO
ferritin  ßŸ¡“°Ê „πª®í®∫ÿπ—®ß÷¡°’“√ª√–‡¡π‘ ‚¥¬°“√  “¡“√∂®—∫·≈–∂Ÿ°¢—∫∂à“¬ÕÕ°®“°√à“ß°“¬‚¥¬®–
„™‡â§√ÕË◊ß magnetic resonance imaging (MRI) ‡ªπì ‡À≈°Á∑‡Ë’√¬’°«“à labile cellular iron (LCI) ´ß÷Ë
‡ªìπ°“√ª√–‡¡‘π‡À≈Á°„π‡πÈ◊Õ‡¬Ë◊Õ ‚¥¬ “¡“√∂„™â Õ¬√Ÿà–À«“àß°“√·≈°‡ª≈¬’Ëπ√–À«“àߌ‚’¡‚°≈∫π‘ trans-
µ√«®Õ«¬—«–µ“àßÊ ‚¥¬‡©æ“–À«—„®·≈–µ∫—‰¥âÕ¬“à߉√ ferrin ·≈– ferritin ‡¡Ë◊Õ‡À≈Á°®—∫°—∫¬“ DFO „π
°Áµ“¡«‘∏’°“√π’ÈÕ“®¡’¢âÕ®”°—¥„π‡√Ë◊ÕߢÕ߇§√Ë◊Õß¡◊Õ °√–· ‡≈◊Õ¥‡ªìπ ferrioxamine ®–∂Ÿ°¢—∫ÕÕ°®“°
·≈–°“√Õà“πº≈‚¥¬ºâŸ‡™’ˬ«™“≠ „πª√–‡∑»‰∑¬®÷ß √à“ß°“¬∑“ßªí  “«–‡ªìπ à«π„À≠àπÕ°®“°πÈ—π‡ªìπ
Õ“®æ®‘“√≥“∑”„π√“¬∑√’Ë–¥∫— ferritin ¡“°°«“à2,500 ‡À≈°Á∑‡’Ë°∫Á – ¡Õ¬„Ÿàπ‡πÕÈ◊‡¬Õ◊ˇ™πà µ∫— ´ß÷Ë®–∂°Ÿ¢∫—
π°./¡≈.22 ÕÕ°∑“ßπÈ”¥≈’ß ≈Ÿà”‰ „âÀ≠àÕÕ°¡“∑“ßÕ®ÿ®“√–‡ªπì
 ”À√—∫¢âÕ∫àß™’È„π°“√„À⬓¢—∫‡À≈Á°„πºâŸªÉ«¬  «àππÕ⬠„πºªŸâ «É¬‡¥°Á·π–π”„À¬â“„π¢π“¥ 20-40
TDT ª√–°Õ∫¥«â¬¢Õâ„¥¢ÕâÀπß÷˵Õà‰ªπ2’È3 ¡°./°°./«—π ®”π«π 5-7 «—π/ —ª¥“Àå∫√‘À“√
1. √–¥∫— ferritin  ßŸ°«“à 1,000 π°./¡≈. ¬“‚¥¬°“√©¥’‡∑“àππÈ—

‡∫µ“â-∏“≈ —´‡’¡¬’ ß-Thalassemia 13

‚¥¬©’¥‡¢â“„µâº‘«Àπ—ß·≈–„™â‡§√◊ËÕߙ૬©’¥¬“ ‚¡‡≈°≈ÿµÕà∏“µ‡ÿÀ≈°Á1 ‚¡‡≈°≈ÿ(3:1) ¢π“¥¬“∑„’Ë™§âÕ◊
(infusion pump) ™“âÊ «π—≈– 8-12 ™«—Ë‚¡ß µ¥‘µ“¡ 75-100 ¡°./°°./«π— ‚¥¬Õ“®æ®‘“√≥“‡√¡Ë‘„À∑â ¢’Ëπ“¥
¥Ÿº≈°“√¢—∫‡À≈Á°‚¥¬µ‘¥µ“¡¥Ÿ√–¥—∫ ferritin ∑ÿ° 50 ¡°./°°./«—π ·≈–ª√—∫¢π“¥¬“¢÷Èπ ‚¥¬·∫àß
2-3 ‡¥Õ◊π ·≈–ª√∫—¢π“¥¬“µ“¡§«“¡‡À¡“– ¡ √—∫ª√–∑“π 3 ‡«≈“µàÕ«—πÀ≈—ßÀ√◊Õæ√âÕ¡Õ“À“√
ª®í®∫ÿπ—°“√„™¬â“ DFO ™π¥‘©¥’‚¥¬„À¬â“‡ªπì ¡’∑—Èß√Ÿª·∫∫¬“‡¡Á¥ (tablet) ·≈–¬“π”È (syrup)
continuous intravenous infusion 12-24 ™«Ë—‚¡ß  ”À√∫—‡¥°Á27 ®“°°“√»°÷…“æ∫«“ଓ DFP π ’È“¡“√∂
∑“ß infusion pump ®–æ‘®“√≥“„™â‡¡Ë◊ÕºŸâªÉ«¬¡’ ≈¥ª√‘¡“≥‡À≈Á°≈ßÕ¬à“߉¥âº≈·≈–√–¥—∫‡À≈Á°„πµ—∫
ªí≠À“∑“ßÀ—«„®®“°¿“«–‡À≈Á°‡°‘π‚¥¬∑Ë’¡’°“√ (liver iron concentration, LIC) ≈¥≈߇¡ÕË◊ºªâŸ«É¬
∑”ß“π¢ÕßÀ—«„®ÀâÕß≈à“ߴ⓬ (left ventricular ‰¥√â∫—¬“‡ªπì ‡«≈“µ¥‘µÕà°π— ‚¥¬æ∫«“ສŸâ «É¬‡¥°Á∑„’Ë™â
ejection fraction, LVEF) πâÕ¬°«à“√âÕ¬≈– 56 ¬“ DFP ‡ªπì ¬“‡¥¬’Ë«·≈–‰¥√â∫—‡≈Õ◊¥ª√–®”®–¡°’“√
À√Õ◊„π°√≥∑’¡’Ë√’–¥∫— ferritin  ßŸ¡“°À√Õ◊°“√‡µ√¬’¡ µÕ∫ πÕßµÕà°“√√°—…“ª√–¡“≥√Õâ¬≈– 52 „π¢π“¥
ºŸâªÉ«¬‡æ◊ËÕª≈Ÿ°∂à“¬‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥À√◊Õ ¬“ 75 ¡°./°°./«—π28  ”À√—∫º≈¢â“߇§’¬ß¢Õ߬“
‰¡µà Õ∫ πÕßµÕà ¬“¢∫—‡À≈°Á™π¥‘Õπ◊Ë DFP ª√–°Õ∫¥«â¬ Õ“°“√ª«¥∑Õâß §≈πË◊‰ âÕ“‡®¬’π
 ”À√∫—º≈¢“â߇§¬’ߢÕ߬“ DFO ∑æË’∫‰¥§âÕ◊ æ∫‰¥â√âÕ¬≈– 3-30  à«π„À≠à®–æ∫„π 2  —ª¥“Àå
∫«¡·¥ßµ√ß∫√‘‡«≥∑Ë’·∑߇¢Á¡ º≈¢â“߇§’¬ß∑Ë’ ”§—≠ ·√°¢Õß°“√‰¥â¬“ À≈—ß®“°πÈ—π√à“ß°“¬ºâŸªÉ«¬®–ª√—∫
∑µË’Õâß√–«ß— ‡™πà °“√‰¥¬âπ‘≈¥≈ß ´ß÷ËÕ“®‡ªπ왫—˧√“« µ«—‰¥â ”À√∫—Õ“°“√ª«¥¢Õâ·≈–¢Õâ∫«¡æ∫‰¥√âÕâ¬≈–
À√◊Õ∂“«√ Õ“°“√·∑√°´âÕπ∑“ßµ“ ‡™àπ °“√¡Õß 4-17  à«π„À≠àÕ“°“√‰¡à√ÿπ·√ß ‚¥¬ “¡“√∂ª√—∫
‡ÀÁπº‘¥ª°µ‘À√◊Õµ“∫Õ¥ ’‡ªìπµâπ ¥—ßπ—Èπ®÷ßµâÕß¡’ ≈¥¬“≈ß Õ¬“à߉√°µÁ“¡¿“«–·∑√°´Õâπ∑ ’Ë”§≠— ∑ Ë’¥ÿ
°“√µ√«®°“√ª√–‡¡π‘°“√‰¥¬âπ‘·≈–°“√¡Õ߇ÀπÁ°Õàπ §Õ◊¿“«–‡¡¥Á‡≈Õ◊¥¢“«µ”Ë/¿“«–‡¡¥Á‡≈Õ◊¥¢“«µ”ËÕ¬“àß
‰¥√â∫—¬“·≈–µ√«®´È”„π∑°ÿÊ ªï¢Õâ®”°¥—¢Õ߬“ DFO √πÿ·√ß (neutropenia/agranulocytosis) À√Õ◊°“√
„πª®í®∫ÿπ—§Õ◊µÕâß¡‡’§√ÕË◊ß™«à¬©¥’¬“ (infusion pump) ¡√’–¥∫—‡Õπ‰´¡„åπµ∫—‡æ¡‘Ë¢π÷È (transaminitis)
µ≈Õ¥®πµâÕß©’¥‡¢â“„µâº‘«Àπ—ß ∑”„ÀâºâŸªÉ«¬‰¡à§àÕ¬ ¥ß—ππÈ—ºªâŸ«É¬§«√‡®“–‡≈Õ◊¥¥ªŸ√¡‘“≥‡¡¥Á‡≈Õ◊¥
Õ¬“°©’¥ À√◊Õ∂â“©’¥°Á®–©’¥‰¥â„π√–¬–‡«≈“‰¡àπ“π ¢“«∑°ÿ 1-2  ª—¥“À„åπ™«àß 3 ‡¥Õ◊π·√° ∂“âª√¡‘“≥
¡“°æÕ ‡¡Á¥‡≈◊Õ¥¢“«µ”Ë (neutropenia) ¡’√–¥—∫πâÕ¬°«à“
1,500 ‡´≈≈åµàÕ≈∫.¡¡. À√◊Õ¡’√–¥—∫‡Õπ‰´¡å„πµ—∫
¬“ deferiprone (DFP)25 ‡æ¡‘Ë¢πÈ÷ (¡√’–¥∫— ALT  ßŸ°«“à 5 ‡∑“à¢Õߧ“રµ)‘

‡ªìπ¬“¢—∫‡À≈Á°™π‘¥√—∫ª√–∑“π ´÷Ë߇ªì𠧫√殑“√≥“À¬¥ÿ¬“
¬“∑Ë’®¥∑–‡∫’¬π·≈–º≈‘µ‰¥â„πª√–‡∑»‰∑¬‚¥¬
Õߧ尓√‡¿ —™°√√¡26 ·≈–∫√√®ÿÕ¬Ÿà„π∫—≠™’¬“À≈—° ¬“ deferasirox (DFX)29

·Ààß™“µ‘„™â„π°≈àÿ¡ºâŸªÉ«¬‡¥Á°∑’ËÕ“¬ÿ¡“°°«à“ 6 ªï ‡ªìπ¬“¢—∫‡À≈Á°∑Ë’„™â√—∫ª√–∑“π ‚¥¬‡ªìπ “√
·≈–„πº„âŸÀ≠ଓ DFP  “¡“√∂· ¥ß§≥ÿ ¡∫µ—‡‘ªπì ‡§¡’™π‘¥„À¡à∑’Ë∂Ÿ°æ—≤π“¢È÷π‚¥¬≈—°…≥–¢Õß “√„π
∑ßÈ—pro-oxidant ·≈– anti-oxidant ‰¥„âπºªâŸ«É¬ ¢πÈ÷ ¬“µ—«πÈ’‡ªìπ°≈ÿà¡„À¡à∑Ë’‡ªìπ N-substituted bis
Õ¬Ÿà °—∫Õ—µ√“ à«π¢Õ߬“µàÕ‡À≈Á°„π°√–· ‡≈◊Õ¥ hydroxyphenyl-triazoles ®”π«π 2 ‚¡‡≈°ÿ≈®—∫
‡πÕË◊ß®“°¬“ DFP ‡ªπì ¬“¢∫—‡À≈°Á ´ß÷˵Õâß°“√¬“ 3 °π—¢π÷ȇªπ쬓‡™ß‘´Õâπ ¡∫√Ÿ≥°å∫—‡À≈°Á(Fe3+) (2:1)

14 ™“≠™¬— ‰µ√«“√’

ªí®®ÿ∫—π¡’2 √Ÿª·∫∫§◊Õ ·∫∫ dispersible tablet ®“°„À¬â“´È”
(DT) ‚¥¬¢π“¥¬“∑„’Ë™â§Õ◊ ¢π“¥ 20-40 ¡°./°°./ - ºªâŸ«É¬‰¡µàÕ∫ πÕßµÕà°“√√°—…“ °≈“૧Õ◊
«π— «π—≈–§√ßÈ— ¢π“¥¬“∑·’Ëπ–π” “¡“√∂‡√¡Ë‘µπâ ¥«â¬ ¡’°“√„™â¬“ DFP „π¢π“¥ Ÿß ÿ¥∑Ë’ºŸâªÉ«¬ “¡“√∂
¢π“¥ 20 ¡°./°°./«—π «—π≈–§√È—ß ·≈– “¡“√∂ ∑π‰¥Àâ √Õ◊∂ß÷√–¥∫— 100 ¡°./°°./«π— ·≈–¡√’–¥∫—
ª√∫—¢π“¥¬“‡æ¡‘Ë¢π÷ȧ√ß—È≈– 5-10 ¡°./°°./«π— ∑°ÿ ferritin ¡“°°«“à 2,500 π°./¡≈. À√Õ◊√–¥∫— ferritin
3-6 ‡¥Õ◊π ‚¥¬¢π“¥¬“ ßŸ ¥ÿ§Õ◊ 40 ¡°./°°./«π— ‰¡à≈¥≈ßÀ√◊Õ‡æ‘Ë¡¢È÷πÀ≈—ß√—∫¬“‰ª·≈⫇ªìπ‡«≈“ 1 ªï
¬“ DFX ‡ªìπ¬“∑Ë’ “¡“√∂„™â‰¥âÕ¬à“ߪ≈Õ¥¿—¬„π À√◊Õ≈¥≈߉¡à∂÷ß√âÕ¬≈– 15 ®“°§à“‡√Ë‘¡µâπÀ≈—ß√—∫¬“
‡¥°ÁÕ“¬ÿ2-6 ªï ”À√∫—º≈¢“â߇§¬’ߢÕß ¬“∑æË’∫∫Õଠ‰ª·≈⫇ªìπ‡«≈“ 2 ªï ”À√—∫¬“ DFX (FCT)
‰¥·â°à§≈πË◊‰ âÕ“‡®¬’𠪫¥∑Õâß °“√∑”ß“π¢Õ߉µ ‡ªπì ¬“πÕ°∫≠— ™¬’“À≈°—·Àßà™“µ·‘≈–„Àæâ ®‘“√≥“‡ªπì
º¥‘ª°µ‘‡ªπì µπâ ®“°º≈¢“â߇§¬’ß∑“ß√–∫∫∑“߇¥π‘ √“¬Ê‰ªµ“¡§«“¡‡À¡“– ¡  ”À√—∫√“¬≈–‡Õ’¬¥
Õ“À“√„πªí®®ÿ∫—π‰¥âæ—≤𓬓¡“„π√Ÿª·∫∫„À¡à‡√’¬° §≥ÿ  ¡∫µ—‡‘ª√¬’∫‡∑¬’∫√ªŸ·∫∫¬“¢∫—‡À≈°Á∑ßÈ— 3 ™π¥‘
«“à film-coated tablet (FCT) ¢π“¥¬“∑„’Ë™â§Õ◊ µ≈Õ¥®π¢π“¥¬“∑Ë’„™â·≈–º≈¢â“߇§’¬ß∑Ë’‡°‘¥¢È÷π‰¥â
¢π“¥ 14-28 ¡°./°°./«π— √∫—ª√–∑“π«π—≈–§√ß—È √ªÿ‡ªπì √“¬≈–‡Õ¬’¥‰«âµ“¡µ“√“ß∑’Ë1.4
 ”À√—∫À≈—°‡°≥±å°“√„™â¬“¢—∫‡À≈Á° DFX
™π¥‘ DT „π‡¥°Á‰¥∂â °Ÿ∫√√®‡ÿªπì ¬“„π√–∫∫∫≠— ™¬’“ °“√„™¬â“¢∫—‡À≈°Á √«à¡°π—
À≈—°·Ààß™“µ‘ª√–‡¿∑ ®.2 „πª√–‡∑»‰∑¬‚¥¬¡’¢âÕ „π°√≥’∑’Ë„™â¬“·∫∫©’¥À√◊Õ√—∫ª√–∑“π·∫∫
殑“√≥“°“√„™°â ≈“૧Õ◊ ‡¥¬’« (monotherapy) ·≈«â‰¡‰à¥ºâ ≈ §«√殑“√≥“
1. Õ“¬ºÿªâŸ«É¬ 2-6 ªï „™¬â“¢∫—‡À≈°Á√«à¡°π— (combined treatment) ‰¥â
¡¢’Õâ∫ßà™¢’ÈÕâ„¥¢ÕâÀπßË÷µÕà‰ªπÈ’ ¡°’“√»°÷…“30-32 ‚¥¬„™¬â“ DFP „π¢π“¥ 50-100
- √–¥∫— ferritin ¡“°°«“à 1000 π°./¡≈. ¡°./°°./«π— √«à¡°∫—°“√„™¬â“ DFO ¢π“¥ 40 ¡°./
µ¥‘µÕà°π—Õ¬“àßπÕâ¬2§√ßÈ—«¥—À“àß°π—Õ¬“àßπÕâ¬1‡¥Õ◊π °°./«π— ‡ªπì ‡«≈“ 2-5 «π— æ∫«“à°“√„À¬â“∑ß—È2 ™π¥‘
- √–¥∫—∏“µ‡ÿÀ≈°Á„π°“√∑” MRI (T2*) > 7 √«à¡°π— ‡ªπì°“√‡ √¡‘ƒ∑∏„‘Ïπ°“√¢∫—‡À≈°Á (synergistic
¡°.‡À≈°Á/°√¡—π”ÈÀπ°—‡πÕÈ◊µ∫—·Àßâ effect) ‰¥â¥’‚¥¬°“√„À⬓µàÕ‡πË◊Õß°—π·≈–‡ªìπ°“√
2. Õ“¬ºÿªŸâ «É¬¡“°°«“à 6 ªïºªŸâ «É¬ ¡§«√‰¥â ≈¥Õ“°“√·∑√°´ÕâπÀ√Õ◊ƒ∑∏Ï‘‰¡æà ß÷ª√– ß§¢åÕ߬“≈ß
√∫— DFX ™π¥‘ DT ¥«â¬‡Àµºÿ≈¡¢’Õâ∫ßà™¢’ÈÕâ„¥¢Õâ æ∫«“ສ⟫ɬ¡§’≥ÿ¿“晫’µ‘∑’Ë¥’¢÷Èπ πÕ°®“°π—Èπ¡’°“√
Àπß÷˵Õà‰ªπÈ’ »°÷…“„™¬â“ DFO ¢π“¥ 50 ¡°./°°./«π— ‡ªπ쇫≈“
- ‡°¥‘Õ“°“√‰¡æà ß÷ª√– ß§®å“°¬“ DFP µ“¡ 5-7 «π— √«à¡°∫—¬“ DFX „π¢π“¥ 40 ¡°./°°./«π—
 “‡Àµ¢ÿÕâ„¥¢ÕâÀπß÷˥ߗµÕà‰ªπ’È „πºâŸªÉ«¬∏“≈— ´’‡¡’¬∑Ë’¡’‡À≈Á°‡°‘π¡“°„πµ—∫·≈–„π
- ¡Õ’“°“√·æ¬â“ DFP À«—„®æ∫«“ࡪ’√– ∑‘∏¿‘“æ „π°“√≈¥‡À≈°Á‡°π‘¡“°„π
- ¡’º≈µ√«®√–¥—∫‡Õπ‰´¡å„πµ—∫‡æ‘Ë¡¢÷Èπ µ∫—·≈–„πÀ«—„®‰¥¥â¡’“°‡™πà ‡¥¬’«°π—33
(transaminitis) (ALT À√Õ◊ AST ¡“°°«“à 2.5 ‡∑“à
¢Õß upper limit ¢Õߧ“રµ‘ °“√√—°…“·∫∫„À¡„àπºâªŸ«É¬‡∫µâ“-∏“≈— ´‡’¡’¬

- ¡¿’“«– agranulocytosis „πª®í®∫ÿ𗉥¡â«’«‘≤— π“°“√·≈–æ≤— π“°“√√°—…“
- ¡’¿“«– neutropenia ·≈–‡°‘¥´È”À≈—ß ¥â«¬¬“„π‚√§‡∫µâ“-∏“≈— ´’‡¡’¬À≈“¬√Ÿª·∫∫®“°

µ“√“ß∑’Ë1.4 §≥ÿ  ¡∫µ—¢‘Õ߬“¢∫—‡À≈°Á∑„’Ë™„âπª√–‡∑»‰∑¬ ‡∫µâ“-∏“≈ —´‡’¡¬’ ß-Thalassemia

™Õ◊Ë ¬“ Deferoxamine Deferiprone Deferasirox

§≥ÿ  ¡∫µ—‘ ©¥’™πÈ—„µºâ «‘Àπß—À√Õ◊∑“ß √∫—ª√–∑“π Film-coated tablet (FCT)Dispersible tablet (DT)
°“√„™§â«“¡∂’Ë À≈Õ¥‡≈Õ◊¥ 8-12 ™¡. 3 §√ßÈ—/«π— √∫—ª√–∑“π √∫—ª√–∑“π
5-7 «π—/ ª—¥“Àå 1 §√ß—È/«π— 1 §√ß—È/«π—
¢π“¥¬“∑„Ë’™„âπ TDT 20-40
(¡°./°°./«π—) - 50-100 14-28 20-40
¢π“¥¬“∑„Ë’™â„π NTDT > 2 ªï
(¡°./°°./«π—) - - 7-21 10-30
Õ“¬∑ÿ‡’Ë√¡Ë‘„™â ∑“ߪ í  “«–/Õ®ÿ®“√–
°“√¢∫—∂“ଢÕ߇À≈°Á µ“∫Õ¥ ’°“√≈¥≈ߢÕß°“√ > 6 ªï > 2 ªï(TDT)
º≈¢“â߇§¬’ß∑Õ’Ë “®æ∫‰¥â ‰¥¬âπ‘ ·≈–°“√‡®√≠‘ ¢Õß - > 10 ªï(NTDT)
°√–¥°Ÿ™“â≈ß ∑“ߪ í  “«– ∑“ßÕ®ÿ®“√–
ª«¥¢Õâ ‡¡¥Á‡≈Õ◊¥¢“«µË” Õ“°“√ª«¥∑Õâß ∑Õâ߇ ¬’ §“à°“√∑”ß“π¢Õ߉µ
Õ“°“√ª«¥∑Õâ ß ·≈–§“à‡Õπ‰´¡µå ∫— ßŸ¢π÷È

TDT = transfusion-dependent thalassemia, NTDT = non-transfusion-dependent thalassemia

15

16 ™“≠™—¬ ‰µ√«“√’

°“√∑¡Ë’°’“√ √“â߇ πâ ‡∫µ“â≈¥≈ßÀ√Õ◊‰¡ à√“â߇≈¬ (β- (JAK2) inhibitor §≥ÿ  ¡∫µ—¢‘Õ߬“µ«—π¡È’∫’∑∫“∑
globin chain imbalance) ∑”„À‡â πâ·Õ≈ø“É®∫—°π—‡Õß  ”§—≠‡πË◊Õß®“° JAK2 ‡ªìπ‡Õπ‰´¡åµ—«ÀπË÷ß∑’Ë¡’
·≈–µ°µ–°Õπ„π‡¡Á¥‡≈◊Õ¥·¥ß∑”„À⇰‘¥¢∫«π ∫∑∫“∑ ”§—≠„π¢∫«π°“√ signaling pathway
°“√ √“â߇¡¥Á‡≈Õ◊¥·¥ß„π‰¢°√–¥°Ÿ‰¡¡à ª’√– ∑‘∏¿‘“æ ¢Õ߇¡Á¥‡≈◊Õ¥·¥ß ∑”„Àâ¡’°“√≈¥≈ߢÕߢ∫«π°“√
(ineffective erythropoiesis) ‚¥¬¡¢’∫«π°“√ dif- proliferation ‚¥¬¡°’“√«®‘¬—„π√–¬–∑’Ë2a35 „πºªŸâ «É¬
ferentiation ≈¥≈ß ·≈–¡¢’∫«π°“√ proliferation ‚√§‡∫µâ“-∏“≈— ´’‡¡’¬∑’Ë¡’¡â“¡‚µæ∫«à“ “¡“√∂≈¥
‡æË‘¡¢÷Èπ µ≈Õ¥®π∑”„À≪‡°’ˬ«¢âÕß¿“«–‡À≈Á°‡°‘π ¢π“¥¡“â¡≈߉¥Õ⬓à߇ÀπÁ‰¥™â¥â ‚¥¬≈¥≈ß √Õâ¬≈– 19.7
·≈–¿“«–‡≈Õ◊¥®“߇√ÕÈ◊√ß—®π°√–∑ߗˬÕâπ°≈∫—¡“¡º’≈µÕà „π ª—¥“À∑åË’12 ·≈–≈¥≈ß∂ß÷√Õâ¬≈– 26.8 „π ª—¥“À∑åË’
¢∫«π°“√ ineffective erythropoiesis Õ°’§√ßÈ—ÀπßË÷ 30 ®“°¢âÕ¡Ÿ≈‡∫◊ÈÕßµâ𬓙π‘¥π’È®÷߇ªìπ¬“∑Ë’πà“ π„®
¥ß—ππÈ—®¥ÿ¡ßÿàÀ¡“¬¢Õß°“√√°—…“π‡È’æÕ◊Ë∑”°“√√°—…“µ“¡ „πºâŸªÉ«¬‚√§‡∫µâ“-∏“≈— ´’‡¡’¬∑’Ë¡’¡â“¡‚µ¡“°À√◊Õ
°≈‰°°“√‡°¥‘‚√§µ“¡·ºπ¿¡Ÿ∑‘Ë’1.1 ª√–°Õ∫¥«â¬ ‡æÕ◊ËÀ≈°’‡≈¬Ë’ß°“√µ¥—¡“â¡·≈–º≈°√–∑∫√–¬–¬“«
4. °“√‡æ¡Ë‘¢∫«π°“√ differentiation
1. °“√√—°…“¥â«¬¬’π∫”∫—¥·≈–°“√ª≈Ÿ°∂à“¬ ®¥ÿª√– ß§¢åÕߢ∫«π°“√π§’ÈÕ◊‡æ¡‘Ë°“√differ-
‡´≈≈åµâ𰔇𑥇¡Á¥‡≈◊Õ¥ (gene therapy and entiation ¢Õ߇¡¥Á‡≈Õ◊¥·¥ß ‚¥¬‡©æ“–™«àß ¥ÿ∑“â¬
hematopoietic stem cell transplantation) ¢Õß°“√ √â“߇¡Á¥‡≈◊Õ¥·¥ß (late-stage erythro-
poiesis) ‚¥¬æ∫«“ສ⟫ɬ‚√§‡∫µ“â-∏“≈ —´‡’¡¬’®–¡’
‡πÕË◊ß®“°°“√ √“â߇ πâ ‡∫µ“â≈¥≈ßÀ√Õ◊‰¡¡à°’“√ °“√ √“âß growth differentiation factors (GDFs)
√“â߇≈¬ (β-globin chain imbalance) ‚¥¬¡®’¥ÿ ‡™πà GDF11 ‡ræe¡cË‘e¡p“t°o¢rsπ÷È‚¥(A¬®c–tR∑”sß)“3π6ª√´–÷Ëß ‰“ªπ¡√’º«à¡≈
ª√– ß§å‡ªìπ°“√√—°…“¥â«¬°“√∑”ª≈Ÿ°∂à“¬‡´≈≈åµâπ °—∫ activin
°”‡π¥‘‡¡¥Á‡≈Õ◊¥ (stem cell transplantation) √«à¡ °√–∑∫µàÕ°“√ differentiation ·≈– °“√ √â“ß
°—∫°“√√—°…“¥â«¬¬’π∫”∫—¥ (gene therapy) ‡æË◊Õ °√–¥°Ÿ„πºªŸâ «É¬°≈¡ÿàπÈ’¥ß—ππ—È®ß÷‰¥¡â°’“√𔬓„π°≈¡àÿ
∑”„À¡â°’“√ √“â߇ πâ ‡∫µ“â∑ªË’°µ‘ ∑Ë’‡√’¬°«à“ luspatercept ·≈– sotatercept37 ∑Ë’¡’
§ÿ≥ ¡∫—µ‘‡ªìπ ActRs fusion protein ∑”„Àâ¡’
2. °“√°√–µπâÿ°“√ √“âß Hb F (induction º≈µÕà°“√ √“â߇¡¥Á‡≈Õ◊¥·¥ß·≈–æ≤— π“‡¡¥Á‡≈Õ◊¥·¥ß
of HbF) (erythroid maturation) „À¡â¢’∫«π°“√ differen-
tiation ¥’¢÷Èπ ‡π◊ËÕß®“°¡’°“√„™â¬“°≈ÿà¡π’È„πºâŸªÉ«¬
„πª®í®∫ÿπ— hydroxyurea ∂Õ◊‡ªπì ¬“∑ Ë’“¡“√∂ ‚√§°√–¥Ÿ°æ√ÿπ„πºâŸÀ≠‘ß∑’Ë«—¬À¡¥ª√–®”‡¥◊Õπ38
‡æ¡Ë‘√–¥∫— Hb F ·≈–∂°ŸÕπ¡ÿµ—„‘À„â™√â°—…“‰¥„âπºªŸâ «É¬ (postmenopausal osteoporosis) æ∫«à“¡’§à“
‚√§‡≈◊Õ¥®“ß®“° sickle cell „π¢≥–∑’Ë¢âÕ¡Ÿ≈„π Œ’‚¡‚°≈∫‘π Ÿß¢÷Èπ ´÷Ëß„πªí®®ÿ∫—π„πºâŸªÉ«¬‚√§‡∫µâ“-
‚√§∏“≈ —´‡’¡¬’¬ß—¡®’”π«π®”°¥— ¡√’“¬ß“π°“√„™®â“° ∏“≈ —´‡’¡¬’¬ß—Õ¬„Ÿàπ°“√»°÷…“·≈–«®‘¬—
∞“π¢Õâ¡≈Ÿ„π Cochrane34 «“à°“√„™¬â“ hydroxyurea 5. °“√§«∫§¡ÿ¿“«–‡À≈°Á‡°π‘
¬ß—‰¡¡àÀ’≈°—∞“π∑™’Ë¥—‡®π„π°“√≈¥°“√„À‡â≈Õ◊¥„πºªâŸ«É¬ ‚¥¬ª°µ‘hepcidin (hepatic bactericidal
NTDT ‰¥â πÕ°®“°πÈ—π¬—ß¡’º≈¢â“߇§’¬ß∑’˵âÕß protein) ‡ªìπ‚ª√µ’π∑Ë’§«∫§ÿ¡‡°Ë’¬«°—∫‡À≈Á°„π
√–«—߉¥â·°à ‡¡Á¥‡≈◊Õ¥¢“«µ”Ë π”ÈÀπ—°≈¥ ‡ªìπµâπ √à“ß°“¬‚¥¬ √â“ß®“°µ—∫´Ë÷ß¡’§ÿ≥ ¡∫—µ‘‰ª¬—∫¬È—ß°“√

3. °“√≈¥¢∫«π°“√ proliferation
¢∫«π°“√ proliferation ∂Õ◊‡ªπì «àπÀπß÷Ë¢Õß
ineffective erythropoiesis ‚¥¬¡’°“√„™â¬“™◊ËÕ
ruxolitinib ´Ë÷߇ªì𬓄π°≈ÿà¡ Janus kinase 2

‡∫µ“â-∏“≈ —´’‡¡¬’ ß-Thalassemia 17

·ºπ¿¡Ÿ∑‘’Ë1.1 °≈‰°°“√‡°¥‘‚√§·≈–°“√√°—…“·∫∫„À¡„àπºªŸâ «É¬‡∫µ“â-∏“≈ —´‡’¡¬’
(ÕÕ°·∫∫‚¥¬ æ≠. °π°°“≠®πå𓧖 «ÿ√√≥)

GDF 11 = growth differentiation factor 11, HSCT = hematopoietic stem cell transplantation,
ROS = reactive-oxygen species, TMPRSS6 = transmembrane protease serine 6

18 ™“≠™—¬ ‰µ√«“√’

∑”ß“π¢Õß ferroportin (Fpn) ∑”„Àâ‡À≈Á°‡¢â“ àŸ ¡∫’µÿ√∑‡’˪πì ª°µ‘°“√«π‘®‘©¬—°Õàπ§≈Õ¥ (prenatal
°√–· ‡≈◊Õ¥‰¥âπâÕ¬≈ß ¥—ßπÈ—π„π°√≥’∑’Ë¡’¿“«–¢“¥ diagnosis) ‡æ◊ËÕ®–∑”°“√«‘π‘®©¬—„πÀ≠‘ߵߗȧ√√¿å∑Ë’
‡À≈Á° hepcidin ®–¡’ª√‘¡“≥≈¥≈߇æË◊Õ‡æË‘¡°“√ ‡ Ë’¬ßµàÕ‚√§ homozygous β-thalassemia ·≈–
¥Ÿ¥´÷¡‡À≈Á° Õ¬à“߉√°Áµ“¡„πºâŸªÉ«¬ NTDT ´÷Ëß¡’ β-thalassemia/Hb E ·≈–æ∫ µŸ·‘æ∑¬ºå ‡Ÿâ™¬’Ë«™“≠
¿“«–‡≈Õ◊¥®“߇√Õ◊È√ß— √“àß°“¬®ß÷¬ß—µÕâß°“√‡À≈°Á‡æÕË◊ ‡æÕ◊Ë„À§â”ª√°÷…“‡√ÕË◊ß°“√µ√«®«π‘®‘©¬—°Õàπ§≈Õ¥
√â“߇¡Á¥‡≈◊Õ¥·¥ß‡™àπ°—π ∑”„Àâ√à“¬°“¬¬—∫¬—Èß°“√ 2. À“°§√Õ∫§√—«‰¡à¬Õ¡√—∫‡∑§‚π‚≈¬’
∑”ß“π¢Õß hepcidin ‡æÕË◊‡æ¡‘Ë°“√¥¥Ÿ´¡÷‡À≈°Á®“° °“√µ√«®«π‘®‘©¬—∑“√°„π§√√¿°åÕàπ§≈Õ¥
≈”‰ ‡â¢“â °àŸ√–· ‡≈Õ◊¥∑”„À‡â°¥‘¿“«–‡À≈°Á‡°π‘„π∑ Ë’¥ÿ Õ“®¡’∑“߇≈◊Õ°ÕË◊πÊ ‡°’ˬ«°—∫°“√¡’∫ÿµ√¥—ß
´ßË÷·µ°µ“àß®“°ºªâŸ«É¬ TDT ´ßË÷¿“«–‡À≈°Á‡°π‘ «àπ µÕà‰ªπ’È
„À≠à‡°‘¥®“°°“√„À‡â≈Õ◊¥∫Õଇªπì À≈°— ¥ß—ππÈ—¿“«– 2.1 ‡ Ë’¬ß¡’∫ÿµ√Õ’°§πÀπË÷ß´Ë÷ß∫‘¥“¡“√¥“
‡À≈Á°‡°‘π„πºŸâªÉ«¬ NTDT ®÷ß¡’°“√√—°…“‡æË◊Õ‰ª §«√√∫—∑√“∫§«“¡‡ ¬’Ëß∑®’Ë–¡∫’µÿ√‡ªπì ‚√§∏“≈ —´‡’¡¬’
∑”„À‡âæ¡Ë‘ª√¡‘“≥ hepcidin „π√“àß°“¬ ‡√¬’°™ÕË◊«“à ∑ÕË’“®√πÿ·√ß·≈–§«√„À¢âÕâ¡≈Ÿ‡°¬Ë’«°∫—Õµ—√“°“√‡ ¬’Ëß
minihepcidin39 ∑”„À°â“√¥¥Ÿ´¡÷¢Õß∏“µ‡ÿÀ≈°Á®“° ‚¥¬„™Àâ ≈°—°“√∂“à¬∑Õ¥·∫∫ autosomal recessive
≈”‰ ≈â¥≈ß À√Õ◊°“√„™¬â“„π°≈ÿ¡à transmembrane 2.2 „Àâ§ÿ¡°”‡π‘¥‰«â°àÕπ‡æ◊ËÕ√Õ‡∑§‚π‚≈¬’
protease serine 6 (TMPRSS6) inhibitor40 ∑“ß°“√‡®√‘≠æ—π∏ÿ剥ⷰఓ√µ√«®‰¢à‡æ◊ËÕÀ“æ“À–
‡æ◊ËÕ‰ª≈¥°“√∑”ß“π¢Õß TMPRSS6 ‡æË◊Õ∑”„Àâ ¢Õß∏“≈ —´‡’¡¬’µ“¡¥«â¬°“√ªØ ‘π∏„‘πÀ≈Õ¥∑¥≈Õß
hepcidin ∑”ß“π‡æ¡Ë‘¢π÷ȇ™πà °π— ´ß÷Ë„πª®í®∫ÿπ—ºªŸâ«É¬ (in vitro fertilization, IVF) ‡ªπì µπâ
NTDT ¬ß—Õ¬„Ÿàπ°“√»°÷…“·≈–«®‘¬—
∫∑ √ªÿ

°“√„À§â”ª√°÷…“∑“ßæ—π∏»ÿ“ µ√å ‚√§‡∫µ“â-∏“≈ —´‡’¡¬’®¥—‡ªπì ‚√§‡≈Õ◊¥®“߇√Õ◊È√ß—

∫‘¥“¡“√¥“¢Õߺ⟪ɫ¬‚√§‡∫µâ“-∏“≈— ´’‡¡’¬ ∑Ë’µâÕß°“√§«“¡√à«¡¡◊Õ®“°§√Õ∫§√—«·≈–ºŸâªÉ«¬‡ªìπ
∑°ÿ√“¬¬Õࡇªπìæ“À–¢Õß∏“≈ —´‡’¡¬’·∫∫„¥·∫∫ÀπßË÷ Õ¬à“ß¡“°„π°“√¥Ÿ·≈µπ‡Õß √«¡∂÷ß°“√ªØ‘∫—µ‘µ“¡
°“√«‘π‘®©—¬‚√§∑Ë’∂Ÿ°µâÕ߇ªìπÀ—«„® ”§—≠„π°“√„Àâ §”·π–π”¢Õß·æ∑¬å·≈–°“√¡“µ¥‘µ“¡°“√√°—…“Õ¬“àß
§”ª√°÷…“ ´ß÷Ë¡º’≈°√–∑∫Õ¬“àß¡“°µÕà°“√µ¥— π‘„® ¡Ë”‡ ¡Õ ¥ß—ππÈ—®ß÷‡ªπì  ß‘Ë ”§≠— ∑ ’Ë¥ÿ∑·’Ëæ∑¬ºå ¥Ÿâ ·Ÿ≈
‡°Ë’¬«°—∫°“√¡’§√Õ∫§√—«·≈–°“√¡’∫ÿµ√∫‘¥“¡“√¥“ ®–µÕâßÕ∏∫‘“¬„À§â√Õ∫§√«—·≈–ºªŸâ«É¬√®Ÿâ°—µ«—‚√§ “‡Àµÿ
¢ÕߺŸâªÉ«¬∏“≈— ´’‡¡’¬ §«√‰¥â√—∫°“√ª√–‡¡‘π·≈– ¢Õß‚√§ °“√¥”‡π‘π‚√§ ·≈–«‘∏’√—°…“µà“ßÊ µÈ—ß·µà
√∫—§”ª√°÷…“¥“âπ°“√«“ß·ºπ§√Õ∫§√«— ¥ß—πÈ’ ™«àß·√°¢Õß°“√«π‘®‘©¬— πÕ°®“°ππ—Ȭߗ§«√„À§â«“¡
1. °“√«π‘®‘©¬—∑“√°„π§√√¿°åÕàπ§≈Õ¥  ”§≠—„π°“√„À§â”ª√°÷…“∑“ßæπ—∏°ÿ√√¡·°§à√Õ∫§√«—
∫¥‘“¡“√¥“¢ÕߺªâŸ«É¬∑‡’˪πì ‡∫µ“â-∏“≈ —´‡’¡¬’ ‡æÕË◊ªÕÑß°π—°“√‡°¥‘‚√§∏“≈ —´‡’¡¬’™π¥‘√πÿ·√ߢπÈ÷Õ°’
™π‘¥√ÿπ·√ß §«√√—∫∑√“∫«à“¡’∑“߇≈◊Õ°∑’Ë®– “¡“√∂ „π∫µÿ√§πµÕà‰ª

‡∫µ“â-∏“≈ —´‡’¡’¬ ß-Thalassemia 19

‡Õ° “√Õ“âßÕß‘ G, Wongchanchailert M, Sriroongrueng W, et al.
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∫∑∑Ë’
·Õ≈ø“É-∏“≈ —´‡’¡’¬
α-Thalassemia

2

™“≠™—¬ ‰µ√«“√’

‚√§·Õ≈ø“É-∏“≈ —´‡’¡¬’‡ªπì‚√§∑“ßæπ—∏°ÿ√√¡ µ≈Õ¥®π°“√«‘π‘®©—¬·≈–°“√¥Ÿ·≈√—°…“‚√§·Õ≈øÉ“-
∑’Ëæ∫∫àÕ¬∑’Ë ÿ¥„πª√–‡∑»‰∑¬ ∑’ˇ°‘¥®“°§«“¡º‘¥ ∏“≈ —´‡’¡¬’∑‡’ËÀ¡“– ¡„πª®í®∫ÿπ—
ª°µ¢‘Õ߬π’‡æ¬’ß¬π’‡¥¬’« (single gene disorder)
‡°¥‘®“°°“√°≈“¬æπ—∏åÿ(mutation) ¢Õß α-globin Õ≥æŸπ—∏»ÿ“ µ√å¢Õß‚√§·Õ≈øÉ“-∏“≈— ´‡’¡¬’
gene ∑”„À°â“√ √“âß “¬‚ª√µπ’ α-globin ¡ª’√¡‘“≥ °≈àÿ¡¢Õ߬’π α-globin (α-globin gene
≈¥≈ßÀ√Õ◊¡§’≥ÿ ¿“æ∑≈’Ë¥≈ß  ßàº≈„À‡â¡¥Á‡≈Õ◊¥·¥ß¡’ cluster) ª√–°Õ∫¥«â¬3, 4 ¬π’·≈– pseudogene ‚¥¬
≈°—…≥–º¥‘ª°µ‘·≈–¡Õ’“¬ ÿπÈ— ‚√§·Õ≈ø“É-∏“≈ —´‡’¡¬’ ¡’µ”·ÀπàßÕ¬àŸ∫π·¢π¢â“ß È—π¢Õß‚§√‚¡‚´¡§àŸ∑’Ë16
¡°’“√∂“à¬∑Õ¥∑“ßæπ—∏°ÿ√√¡·∫∫ autosomal reces- (16p13.3)Õ¬∑Ÿàµ’Ë”·Àπßà„°≈ â«àπª≈“¬¢Õß‚§√‚¡‚´¡
sive °≈à“«§◊Õ ∑È—ß∫‘¥“·≈–¡“√¥“¢ÕߺŸâ∑’ˇªìπ‚√§ (telomere) ª√–°Õ∫¥â«¬ 3 functional α-like
∏“≈ —´‡’¡¬’®–‡ªπìæ“À–¢Õß∏“≈ —´‡’¡¬’(thalassemia globin genes ‡√¬’ß≈”¥∫—®“°¥“âπ 5′ ‰ª¥“âπ 3′ ‰¥·â°à
trait) À√Õ◊‡ªπì‚√§∏“≈ —´‡’¡¬’∑Õ’Ë“®¡À’√Õ◊‰¡¡àÕ’“°“√ ¬π’ zeta (ζ), alpha-2 (α2) ·≈– alpha-1 (α1)
Õÿ∫—µ‘°“√≥å¢Õßæ“À–·Õ≈øÉ“-∏“≈— ´’‡¡’¬∑Ë’æ∫∫àÕ¬ globin (HBZ, HBA2 À√Õ◊ HBA1 µ“¡≈”¥∫—)
„πª√–‡∑»‰∑¬1, 2 §◊Õ ·Õ≈øÉ“-∏“≈— ´’‡¡’¬ (α- µ“¡√ªŸ∑’Ë2.1 „π¿“«–ª°µ∑‘ß—È 3 ¬π’∑”Àπ“â∑„Ë’π°“√
thalassemia; α-thal1 ·≈– α-thal2) √Õâ¬≈– 20-30 √â“ß “¬‚ª√µ’π ζ-globin ·≈– α-globin ∑’Ë
‚¥¬æ∫¡“°∑“ß¿“§‡ÀπÕ◊ «àπÀπßË÷æ∫‡ªπìHemoglobin ª√–°Õ∫¥«â¬°√¥Õ–¡‚‘π 141 µ«—„À·â°‡à¡¥Á‡≈Õ◊¥·¥ß
Constant Spring (Hb CS) √âÕ¬≈– 1-8 ‚¥¬¡’ ¢Õßµ«—ÕÕàπ¡π…ÿ¬„åπ§√√¿å(embryonic) µß—È·µÕà“¬ÿ
ºªŸâ«É¬™π¥‘ Hb H disease ª√–¡“≥ 7,000 √“¬ §√√¿åª√–¡“≥ 3  —ª¥“ÀåÀ≈—ß®“°Õ“¬ÿ§√√¿å6-8
µÕà®”π«π‡¥°Á‡°¥‘„À¡à1 ≈“âπ§πµÕàªï·≈–‡ªπì Hb ª—¥“Àå(fetal) ¬π’ ζ-globin ®–À¬¥ÿ∑”ß“π  ßà
Bartûs hydrops fetalis 1,250 √“¬ µàÕ®”π«π º≈„Àâ “¬‚ª√µ’π α-globin ∑—ÈßÀ¡¥‰¥â¡“®“°°“√
‡¥°Á‡°¥‘„À¡à1 ≈“âπ§πµÕàªïµ“¡≈”¥∫— ®ß÷∂Õ◊‰¥«â“à ∑”ß“π¢Õ߬π’ α2-globin ·≈– α1-globin ‡∑“àππ—È
‚√§·Õ≈øÉ“-∏“≈— ´’‡¡’¬‡ªìπªí≠À“ “∏“√≥ ÿ¢ ∑Ë’ ‚¥¬ª°µ‘¬’π α2-globin ·≈–¬’π α1-globin ®–
 ”§—≠¢Õߪ√–‡∑» „π∫∑π’È®–¢Õ°≈à“«∂÷ß·Õ≈øÉ“- √â“ß‚ª√µ’π∑Ë’‡À¡◊Õπ°—π ‚¥¬∑È—ß 2 ¬’ππÈ’®–¡’§«“¡
∏“≈— ´’‡¡’¬„π‡√Ë◊Õ߇°Ë’¬«°—∫≈—°…≥–∑“ßæ—π∏ÿ°√√¡ ·µ°µ“àß°π—‡≈°ÁπÕ⬵√ßµ”·Àπßà intron À√Õ◊ inter-
·≈–§«“¡ —¡æ—π∏å¢Õßæ—π∏ÿ°√√¡·≈–§«“¡√ÿπ·√ß vening sequence 2 (IVS2) ·≈–µ”·Àπàß 3′
¢Õß‚√§·Õ≈ø“É-∏“≈ —´‡’¡¬’∑æË’∫∫Õ଄πª√–‡∑»‰∑¬ untranslated ‚¥¬¬’π α2-globin ®– √â“ß‚ª√µ’π

24 ™“≠™—¬ ‰µ√«“√’

‰¥¡â“°°«“à¬π’ α1-globin ª√–¡“≥ 2-3 ‡∑“à ‡¡Õ◊Ë globin ∑Ë’¢“¥®“°∑—Èß∫‘¥“·≈–¡“√¥“‡°‘¥®“°°“√
‡°¥‘§«“¡º¥‘ª°µ¢‘Õ߬π’ α2-globin ‡æ¬’ß¬π’‡¥¬’« ¢“¥À“¬‰ª¢Õß α-globin ∑—ÈßÀ¡¥®÷ß∑”„Àâ¡’
‡√¬’°«“à α+-thalassemia À√Õ◊ çsilenté α-thalas- Õ“°“√√πÿ·√ß·≈–‡√¬’°¿“«–π«’È“à Hb Bartûs hydrops
semia À√Õ◊ α-thalassemia 2 trait ∂“⇥°Á‰¥√â∫— fetalis ´ßË÷‰¥‡â√¬’∫‡√¬’ß≈”¥∫—§«“¡√πÿ·√ߢÕ߬π’ α-
∂à“¬∑Õ¥¬’π α2-globin ∑Ë’¢“¥®“°∑È—ßæàÕ·≈–·¡à globin ¥ß—°≈“à«„π √ªŸ∑’Ë2.1
®–‡√’¬°«à“ homozygous α+-thalassemia ·µà ‡¡Õ◊ˇ°¥‘°“√°≈“¬æπ—∏¢ÿåÕ߬π’ α-globin ·≈–
‡¡Õ◊ˇ°¥‘§«“¡º¥‘ª°µ¢‘Õ߬π’ α1-globin ‡æ¬’߬π’ β-globin ®– àߺ≈„À⇰‘¥°“√≈¥≈ߢÕß°“√ √â“ß
‡¥¬’« ‡√¬’°«“à α0-thalassemia À√Õ◊ heterozygous Hemoglobin A (Hb A, α2β2) ´ßË÷‡ªπì functional
α0-thalassemia À√Õ◊ α-thalassemia 1 trait ·µà hemoglobin À≈—°„π‡¡Á¥‡≈◊Õ¥·¥ß ‡¡◊ËÕ¡’§à“
∂“â¡°’“√¢“¥À“¬‰ª¢Õ߬π’ α2 ·≈– α1-globin ∑ßÈ— Œ’‚¡‚°≈∫‘π„π‡¡Á¥‡≈◊Õ¥·¥ßµË”≈ß ºŸâªÉ«¬®–¡’Õ“°“√
2 ¬π’ ∑‰Ë’¥√â∫—®“°∫¥‘“·≈–¡“√¥“®–‡√¬’°«“à Hb H ‡≈◊Õ¥®“ß ‡¡Á¥‡≈◊Õ¥·¥ß‰¡à “¡“√∂π”ÕÕ°´‘‡®π‰ª
disease „π¢≥–∑’ˇ¡Ë’Õ‡¥Á°‰¥â√—∫∂à“¬∑Õ¥¬’π α1- ‡≈’Ȭ߇πÈ◊Õ‡¬Ë◊Õµà“ßÊ „π√à“ß°“¬‰¥âÕ¬à“߇撬ßæÕ

√Ÿª∑Ë’2.1 ≈—°…≥–¢Õ߬π’ α-globin ·≈–™π‘¥¢Õßæ“À–·≈–‚√§·Õ≈øÉ“-∏“≈ —´‡’¡¬’
(¢Õâ¡≈Ÿ®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 3, 4 ·≈–√ªŸÕÕ°·∫∫‚¥¬ π“¬‡Õ°æ߻奫âßÕπ‘∑√)å

·Õ≈ø“É-∏“≈ —´’‡¡¬’ α-Thalassemia 25

πÕ°®“°πÈ—π¬—ß¡’º≈µàÕ§«“¡‰¡à ¡¥ÿ≈°—π¢Õß ‡ªìπ genotype ‡ªìπ -α/αα) ‚¥¬ “‡Àµÿ¢Õß
ª√‘¡“≥ “¬‚ª√µ’π α-globin ·≈– β-globin ¬Ë‘ß α-thalassemia-2 ∑’Ëæ∫‰¥â∫àÕ¬„πª√–™“°√‰∑¬
°“√°≈“¬æπ—∏¢åÿÕ߬π’ α-globin ·≈–/À√Õ◊ β-globin ‡°¥‘®“°°“√¢“¥À“¬¢Õ߬π’ α2-globin ∑“ߥ“âπ 3′
 ßàº≈„À‡â°¥‘§«“¡‰¡ à¡¥≈ÿ°π—¡“°¢πÈ÷‡∑“à„¥ ºªâŸ«É¬ °∫—∫“ß «àπ¢Õ߬π’ α1-globin ∑“ߥ“âπ 5′ ∑‡Ë’°¥‘
®–· ¥ß Õ“°“√¢Õß‚√§√πÿ·√ß¡“°¢π÷ȇπÕ◊Ëß®“° “¬ ®“° unequal crossover ¢Õß∑ßÈ— 2 ¬π’ πÕ°®“°
‚ª√µπ’ globin ∑¡Ë’¡’“°°«“à( “¬‚ª√µπ’ globin  «àπ ππÈ—„π intron ¢Õß∑ß—È 2 ¬π’°¡Á ’«àπ¢Õß≈”¥∫—‡∫ 
‡°‘π) ®–®—∫µ—«°—πµ°µ–°Õπ·≈–∑”≈“¬‡´≈≈凡Á¥ ∑Ë’‡À¡◊Õπ°—π ‰¥â·°à à«π X Y ·≈– Z „π°√≥’∑’Ë
‡≈◊Õ¥·¥ß∑—Èß„π√–¬–‡´≈≈凡Á¥‡≈◊Õ¥·¥ßµ—«ÕàÕπ unequal crossover ‡°‘¥√–À«à“ß à«π Z ∑”„Àâ¡’
(erythroid progenitor cell) ∑”„À‡â°¥‘°√–∫«π°“√ °“√¢“¥À“¬‰ª¢Õß DNA ¢π“¥ 3.7 kb ‡√¬’°«“à
ineffective erythropoiesis ·≈–‡¡Á¥‡≈◊Õ¥·¥ß∑’Ë 3.7 kb (rightward) deletion α-thalassemia 2
æ≤— π“ ¡∫√Ÿ≥‰åÀ≈‡«¬’π‡¢“â °àŸ√–· ‡≈Õ◊¥ (mature (À√Õ◊‡¢¬’π genotype ‡ªπì -α3.7/αα) ¡√’“¬ß“π
red cell) ∑”„À⇰‘¥°“√·µ°¢Õ߇¡Á¥‡≈◊Õ¥·¥ß §«“¡º¥‘ª°µ™‘π¥‘πæ’È∫‰¥∂âß÷¡“°°«“à√Õâ¬≈– 956, 7
(hemolysis)  «àπ„π°√≥∑’Ë’unequal crossover ‡°¥‘√–À«“àß «àπ
X ∑”„À¡â°’“√¢“¥À“¬‰ª¢Õß DNA ¢π“¥ 4.2 kb
°“√°≈“¬æ—π∏åÿ¢Õß‚√§·Õ≈øÉ“-∏“≈— ´’‡¡’¬„π ‡√¬’°«“à4.2 kb (leftward) deletion α-thalassemia
ª√–‡∑»‰∑¬ 2 (À√Õ◊‡¢¬’π genotype ‡ªπì -α4.2/αα) æ∫§«“¡

 “‡Àµÿ à«π„À≠à¢Õß°“√°≈“¬æ—π∏ÿå∑’Ë∑”„Àâ º¥‘ª°µ™‘π¥‘ππ’ÈÕ⬰«“à√Õâ¬≈– 5 „πª√–™“°√‰∑¬
‡°¥‘§«“¡º¥‘ª°µ„‘π·Õ≈ø“É-∏“≈ —´‡’¡¬’‡°¥‘®“°°“√  ”À√—∫°“√°≈“¬æ—π∏ÿå·∫∫ non-deletion
¢“¥À“¬¢π“¥„À≠à(large deletion)  à«ππâÕ¬ α-thalassemia ‡°‘¥®“°§«“¡º‘¥ª°µ‘®“°À≈“¬
‡°‘¥®“°°“√°≈“¬æ—π∏åÿ·∫∫ÕË◊πÊ (non-deletion)  “‡Àµÿ‡™πà §«“¡º¥‘ª°µ„‘π mRNA processing
 ”À√—∫„π°≈ÿà¡∑Ë’‡°‘¥®“°°“√¢“¥À“¬πÈ—π „π°√≥’∑Ë’ mRNA translation À√◊Õ α-globin stability
¡°’“√¢“¥À“¬¢Õ߬π’ α-globin ∑ßÈ— 2 ¬π’®–‡√¬’°«“à µ«—Õ¬“àß∑æË’∫„πª√–‡∑»‰∑¬ ‡™πà
α-thalassemia1 trait (À√Õ◊‡¢¬’π genotype‡ªπì --/ 1. Hb Constant Spring (Hb CS) ‡°¥‘
αα)æ∫‰¥Àâ≈“¬™π¥‘·µ∑àæ’Ë∫‰¥∫âÕ଄πª√–™“°√‰∑¬ ®“°§«“¡º‘¥ª°µ‘„π mRNA translation ∑Ë’‡ªìπ
‰¥·â°à°“√¢“¥À“¬™π¥‘ Southeast Asian (--SEA) termination codon mutation ∑”„Àâstop codon
type ∑¡Ë’°’“√¢“¥À“¬ª√–¡“≥ 20 kb (kilobase) „πµ”·Àπßà∑’Ë142 ¢Õ߬π’ α2-globin ‡ª≈¬Ë’π®“°
´ßË÷°“√»°÷…“„πºªŸâ«É¬‡¥°Á∑‡’˪πì‚√§·Õ≈ø“É-∏“≈ —´‡’¡¬’5 TAA ‡ªπì CAA ∑”Àπ“â∑ Ë’√“âß glutamine ·∑π∑’Ë
®”π«π 81 √“¬„πÀπ૬‚≈À‘µ«‘∑¬“ °Õß°ÿ¡“√‡«™ µ”·ÀπßàÀ¬¥ÿ ∑”„À â“¬‚ª√µπ’ α-globin ¡§’«“¡
°√√¡ √.æ.æ√–¡ß°Æÿ‡°≈“â æ∫‡ªπì™π¥‘ Southeast ¬“«¢Õß°√¥Õ–¡‚‘π‡æ¡‘Ë¢πÈ÷‡ªπì 172 µ«— πÕ°®“°ππÈ—
Asian  ßŸ∂ß÷√Õâ¬≈– 98.8 ¡‡’欒ߠ«àππÕ⬠(√Õâ¬≈– mRNA ¢Õߌ’‚¡‚°≈∫‘π‡À≈à“π’ȉ¡à‡ ∂’¬√ ∑”„Àâ
1.2) ∑æ’Ë∫°“√¢“¥À“¬™π¥‘ Thai (--THAI) type  √â“ß “¬‚ª√µ’π α-globin ‰¥âπâÕ¬≈ß¡’º≈‡À¡◊Õπ
 à«π°“√¢“¥À“¬¢Õ߬’π α-globin ‡æ’¬ß¬’π‡¥’¬« α-thalassemia 2
∑”„À‡â°¥‘‡ªπì α-thalassemia-2 trait (À√Õ◊‡¢¬’π

µ“√“ß∑Ë’2.1 ≈°—…≥–°“√°≈“¬æπ—∏¢ÿåÕß‚√§·Õ≈ø“É-∏“≈ —´‡’¡¬’„πª√–‡∑»‰∑¬ (√«∫√«¡¢Õâ¡≈Ÿ®“°‡Õ° “√Õ“âßÕß‘À¡“¬‡≈¢ 5, 6, 9) 26 ™“≠™—¬ ‰µ√«“√’

°“√»°÷ …“ Charoenkwan ·≈–§≥– Laosombat ·≈–§≥– Boonyawat ·≈–§≥–
¿“§°≈“ß
¿¡Ÿ ¿‘ “§ ¿“§‡ÀπÕ◊ ¿“§„µâ 81
®”π«πºªŸâ «É ¬ (√“¬) 102 147
≈°—…≥–¢Õß°≈¡àÿ ∑»’Ë °÷ …“ Deletion, Non-deletion Deletion, Non-deletion
™π¥‘ ¢Õß°“√°≈“¬æπ—∏∑åÿ æ’Ë ∫‰¥â Deletion, Non-deletion Deletion: SEA (144) Deletion: SEA (80)
(√“¬) Deletion: SEA (101) Thai (3)
Thai (1)
Thai (1) 3.7-kb (35)
3.7-kb(34) 3.7-kb (76) 4.2-kb (4)
4.2-kb (10) 4.2-kb (7) Non-deletion: Hb CS (38)
Non-deletion: Hb CS (55) Non-deletion: Hb CS (57)
Hb PS (3) Hb PS (4) Hb PS (1)
Hb QS (2) Hb QS (2)
PolyA (1) Initiation codon (1)

CS = Constant Spring, PS = Pakse, QS = Quong Sze, PolyA = polyadenylation signal

·Õ≈øÉ“-∏“≈ —´‡’¡’¬ α-Thalassemia 27

2. Hb Pakse (Hb PS) ‡°¥‘®“°§«“¡  π—È·≈–∂°Ÿ∑”≈“¬‰¥ßâ“ଠ(peripheral hemolysis)
º¥‘ª°µ„‘π mRNA translation ∑‡Ë’ªπì termination ‚¥¬‡©æ“–„π°√≥∑’¡’ˉ’¢ âߟÀ√Õ◊ ∂°Ÿ oxidized ‚¥¬
codon mutation ‡™àπ‡¥’¬«°—∫ Hb CS ·µà¡’°“√ ¬“À√◊Õ “√‡§¡’®–µ°µ–°Õπ·≈–√«¡µ—«°—π‡ªìπ
‡ª≈’ˬπ·ª≈ß ¢Õß TAA ‡ªìπ TAT À√◊Õ®“° °ÕâπÕ¬¿àŸ“¬„π‡¡¥Á‡≈Õ◊¥·¥ß (inclusion body) ·≈–
µ”·ÀπàßÀ¬ÿ¥°≈“¬‡ªìπ √â“ß tyrosine ·∑π ¡’º≈ ∑”„À⇡Á¥‡≈◊Õ¥·¥ßπ—Èπ∂Ÿ°°”®—¥ÕÕ°‰ªÕ¬à“ß√«¥‡√Á«
‡™πà‡¥¬’«°∫— Hb CS ‚¥¬√–∫∫ reticuloendothelial (RE) ∑”„Àâæ∫¡’
3. Hb Quong Sze (Hb QS) ‡°¥‘®“° ¡“â¡‚µ‰¥‡â≈°ÁπÕâ¬
§«“¡º¥‘ª°µ¢‘Õß α-globinstability¡°’“√‡ª≈¬Ë’π·ª≈ß
¢Õß codon 125 „π exon 2 ¢Õ߬π’ α2-globin Õ“°“√·≈–§«“¡√ÿπ·√ߢÕß‚√§·Õ≈øÉ“-∏“≈— 
®“° CTG ‡ªπì CCG ∑”„Àâleucine ‡ª≈¬’Ëπ‡ªπì ´’‡¡’¬
proline ∑”„À⇰‘¥Œ’‚¡‚°≈∫‘π∑’ˉ¡à‡ ∂’¬√ ¡’º≈ ‚√§·Õ≈ø“É-∏“≈ —´‡’¡¬’ ∑æ’Ë∫„πª√–‡∑»‰∑¬
∑”„À‡â°¥‘‡À¡Õ◊π α-thalassemia 2 ‡ªπìµπâ ‰¥·â°à
¡√’“¬ß“πæ∫«“àª√–¡“≥√Õâ¬≈– 508 ¢Õß°≈¡àÿ 1. Hemoglobin Bartûs hydrops fetalis
non-deletion α-thalassemia ®–‡ªπì Hb Con- ‡°¥‘®“°°“√¢“¥À“¬‰ª¢Õ߬π’ α-globin ∑ß—È
stant Spring (Hb CS) ‡ªìπÀ≈—°  ”À√—∫°“√ 4 ¬’π™π¥‘∑æË’∫∫ÕଧÕ◊ homozygous Southeast
»°÷…“‡°¬’Ë«°∫—≈°—…≥–°“√°≈“¬æπ—∏¢ÿåÕß‚√§·Õ≈ø“É- Asian deletion (- -SEA/- -SEA) ‡ªπì‚√§·Õ≈ø“É-
∏“≈ —´‡’¡¬’„πª√–‡∑»‰∑¬µ“¡¿¡Ÿ¿‘“§µ“àßÊ5,6,9 ‰¥â ∏“≈— ´’‡¡’¬∑Ë’√ÿπ·√ß∑Ë’ ÿ¥ ‡¡Á¥‡≈◊Õ¥·¥ß¢ÕߺŸâªÉ«¬
· ¥ß‰«µâ“¡µ“√“ß∑Ë’2.1 ‰¡ à“¡“√∂ √“âß Hb A (α2α2) À√Õ◊ Hb F (α2γ2)
´Ë÷߇ªìπ functional hemoglobin ‰¥â‡≈¬µÈ—ß·µàÕ¬àŸ
欓∏‘ √√’«‘∑¬“¢Õß‚√§·Õ≈ø“É-∏“≈ —´‡’¡¬’ „ªπ≈§Õà√¬√Õ¿Õ¡å°“´√¥‡‘®“π¡„À‡’æ·â¬’°ß‡àπHÕ◊Èb‡¬BÕ◊Ëaµr“àtßûsÊ(„πγ4√)“àß´°ßË÷“‰¬¡‰ à¥“⺡ªâŸ“√«É∂¬
‡πË◊Õß®“°§«“¡‰¡à ¡¥ÿ≈°—π¢Õߪ√‘¡“≥ α-
globin gene ∑”„À¡âº’≈µÕà°“√ √“âß α- globin πÕ⬠¡°—®–‡ ¬’™«’µ‘¥«â¬Õ“°“√´¥’·≈–∫«¡πÈ”„π‰µ√¡“ ∑’Ë
≈ß „π°√≥’∑Ë’‡ªìπ·Õ≈øÉ“-∏“≈— ´’‡¡’¬ ®–¡’°“√ √â“ß 3 ¢Õß°“√µßÈ—§√√¿Àå √Õ◊‰¡°à™’Ë«—Ë‚¡ßÀ≈ß—‡°¥‘
‡ πâ·Õ≈ø“É≈¥≈ßÀ√Õ◊‰¡ à√“â߇≈¬ (α-globin chain „πªí®®ÿ∫—π¡’ºŸâªÉ«¬°≈àÿ¡πÈ’∑Ë’¡’™’«‘µ√Õ¥Õ¬àŸ„π
imbalance)10 ∑”„À‡â πâ‡∫µ“â®∫—°π—‡Õ߇ªπì β4 À√Õ◊ ª√–‡∑»µà“ßÊ √«¡ª√–‡∑»‰∑¬ºŸâªÉ«¬‡°◊Õ∫∑ÿ°√“¬
Hb H (unstable β-globin chain tetramers) „𠉥√â∫—‡≈Õ◊¥„π√–À«“àßµßÈ—§√√¿å(intrauterine trans-
‡¡¥Á‡≈Õ◊¥·¥ß ‚¥¬ª°µ‘β4 ¡§’≥ÿ  ¡∫µ—∑‘·Ë’µ°µ“àß®“° fusion)11 ·≈–æ∫Õÿ∫—µ‘°“√≥å¢Õß°“√æ‘°“√ Ÿß°«à“
α4 §◊Õ„π ¿“«–ª°µ‘¡—°®–µ°µ–°ÕππâÕ¬°«à“„π ∑“√°·√°‡°‘¥∑Ë—«‰ª®“° “‡Àµÿ°“√¢“¥ÕÕ°´‘‡®π„π
‰¢°√–¥°Ÿ®ß÷∑”„À¢â∫«π°“√ √“â߇¡¥Á‡≈Õ◊¥·¥ß∑‰Ë’¡¡à’ ™à«ßÕ¬àŸ„π§√√¿å®÷߉¡à·π–π”„Àâ¡“√¥“µÈ—ߧ√√¿åµàÕ„π
ª√– ∑‘∏¿‘“æ„π‰¢°√–¥°Ÿ (ineffective erythropoie- °√≥∑’∑’Ë“√°„π§√√¿‰å¥√â∫—°“√«π‘®‘©¬—«“à‡ªπì‚√§π’È
sis) ‰¡¡àº’≈¡“°π°—‡À¡Õ◊π„π‡∫µ“â-∏“≈ —´‡’¡¬’ ®ß÷ 2. Hemoglobin H (Hb H) disease ·∫ßà
∑”„ÀºâªŸâ«É¬¡Õ’“°“√· ¥ß∑“ߧ≈π‘°‘πÕ⬰«“àÕ¬“à߉√ ‡ªπì 2 °≈¡àÿª√–°Õ∫¥«â¬ compound heterozygous
°µÁ“¡°“√∑‡’Ë¡¥Á‡≈Õ◊¥·¥ß‰¡ à¡∫√Ÿ≥·å∫∫·≈–∂°Ÿ √“âß mutation ¢Õß α-thal1 ·≈– α-thal2 (deletional
ÕÕ°‰ª„π°√–· ‡≈Õ◊¥∑”„À‡â¡¥Á‡≈Õ◊¥·¥ß¬ß—§ß¡Õ’“¬ÿ Hb H disease) ·≈– α-thal1 ·≈– non-deletional

28 ™“≠™—¬ ‰µ√«“√’

α-thal (non-deletional Hb H disease) °¡ÿ“√‡«™°√√¡ √.æ.æ√–¡ß°Æÿ‡°≈“â12 ºªŸâ«É¬®”π«π
2.1 Deletional Hb H disease 29 √“¬ æ∫«“àºâŸªÉ«¬„π°≈ÿà¡π’È®–¡’Õ“°“√∑“ߧ≈‘π‘§
ºªŸâ«É¬ «àπ„À≠Õà“®‰¡¡àÕ’“°“√ À√Õ◊‡≈Õ◊¥®“ß ·µ°µ“àß®“°°≈¡àÿ deletional Hb H disease ‚¥¬
‡≈Á°πâÕ¬·µà‰¡à‡§¬‰¥â‡≈◊Õ¥ À√◊ÕµâÕ߉¥â√—∫‡≈◊Õ¥‡ªìπ ¡’°“√‰¥â√—∫‡≈◊Õ¥∫àÕ¬°«à“ ¡’µ—∫‚µ¡â“¡‚µ´÷Ëß¡’§«“¡
§√—Èߧ√“«‡«≈“‰¡à ∫“¬ ºâŸªÉ«¬¡’Õ“°“√√ÿπ·√ßπâÕ¬ ·µ°µà“ß°—πÕ¬à“ß¡’π—¬ ”§—≠∑“ß ∂‘µ‘º≈°“√µ√«®
¡“°®π∂÷ß√–¥—∫ª“π°≈“ß ¥—ßπ—ÈπºâŸªÉ«¬ à«π„À≠à„π ‡≈Õ◊¥ºªâŸ«É¬∑‡Ë’ªπì Hb CS disease ®–æ∫«“àŒ‚’¡‚°
°≈ÿà¡π’È®÷ß®—¥Õ¬Ÿà„π°≈àÿ¡‰¡à¡’Õ“°“√· ¥ß∑“ߧ≈‘π‘° ≈∫‘π¡’§à“‡©≈Ë’¬ 7.9 ± 1.4 °./¥≈. Œ’¡“‚µ§√‘µ¡’§à“
(asymptomatic) °“√‡®√≠‘ ‡µ∫‘‚µª°µ‘Àπ“ⵓª°µ‘ ‡©≈¬’Ë√Õâ¬≈– 27.8 ± 4.9 ®–‡ÀπÁ‰¥«â“ൔ˰«“à„π°≈¡ÿà
æ∫ª√–¡“≥√Õâ¬≈– 70 ¢ÕߺªâŸ«É¬ ºªâŸ«É¬∑‡’˪πì‚√§ deletional Hb H disease Õ¬à“߉√°Áµ“¡ æ∫«à“
∏“≈— ´’‡¡’¬™π‘¥π’ÈÕ“®¡“æ∫·æ∑¬å¥â«¬‡√Ë◊Õß¡’Õ“°“√ MCV ¡§’“à‡©≈¬Ë’ 64.3 ± 7.3 fL ´ß÷ˠߟ°«“à„π°≈¡ÿà
‡≈Õ◊¥®“ßÀ≈ß—®“°¡‰’¢â‚¥¬°“√»°÷…“¢ÕßÀπ«à¬‚≈Àµ‘ deletional Hb H disease Õ¬“àß¡π’¬— ”§≠— ∑“ß ∂µ‘‘
«∑‘¬“ °Õß °¡ÿ“√‡«™°√√¡ √.æ. æ√–¡ß°Æÿ‡°≈“â12 ®“° ·≈–¡’MCH 18.4 ± 2.2 pg ‚¥¬‰¡¡à§’«“¡·µ°µ“àß
ºâŸªÉ«¬®”π«π 29 √“¬ æ∫«à“ºâŸªÉ«¬„π°≈ÿà¡πÈ’®– °π—Õ¬“àß¡π’¬— ”§≠— ∑“ß ∂µ‘‘
¡Õ’“¬‡ÿ©≈¬Ë’∑¡’Ë“æ∫·æ∑¬·å≈–µ√«®æ∫‚¥¬∫ß—‡Õ≠‘ Õ¬àŸ 3. AE Bartûs disease
„π™à«ß 2.8 ªï‚¥¬¡’ºŸâªÉ«¬‡æ’¬ß√âÕ¬≈– 10.3 ∑Ë’‰¥â ‡°¥‘®“°°“√∑º’˪Ÿâ«É¬‡ªπì‚√§ Hb H disease
√—∫‡≈◊Õ¥À≈—ß®“°¡’°“√µ‘¥‡™◊ÈÕ ®“°°“√µ√«®‡≈◊Õ¥ (deletional À√◊Õ non-deletional type) √à«¡
æ∫«“àŒ‚’¡‚°≈∫π‘¡§’“à‡©≈¬’Ë 9.0 ± 1.8 °./¥≈. Œ¡’“ °∫—¡°’“√°≈“¬æπ—∏¢åÿÕ߬π’ β-globin ·∫∫™π¥‘ Hb
‚µ§√µ‘¡§’“à‡©≈¬Ë’√Õâ¬≈– 29.5 ± 5.7 ·≈–¡§’“à‡©≈¬Ë’¢Õß E√«à¡¥«â¬ºªŸâ«É¬°≈¡àÿπ‚È’¥¬¡“°®–¡’√–¥∫—Œ‚’¡‚°≈∫π‘
MCV (mean corpuscular volume) 55.9 ± 8.8 fL ·≈– Õ“°“√∑“ߧ≈𑧑‰¡·àµ°µ“àß®“°ºªâŸ«É¬ Hb H
§“à‡©≈¬’Ë¢Õß MCH (mean corpuscular hemoglobin) disease ®“°°“√»÷°…“¢ÕßÀπ૬‚≈À‘µ«‘∑¬“ °Õß
17.2 ± 3.1 pg ‚¥¬ºªâŸ«É¬ «àπ„À≠®à–‰¡¡àÕ’“°“√ À√Õ◊ °¡ÿ“√‡«™°√√¡ √.æ. æ√–¡ß°Æÿ‡°≈“â12 ºªŸâ«É¬®”π«π
‡≈◊Õ¥®“߇≈Á°πâÕ¬‰¡à‡§¬√—∫‡≈◊Õ¥ À√◊ÕµâÕ߉¥â√—∫ 76 √“¬ ·∫ßà‡ªπì Hb H disease 58 √“¬·≈– AE
‡≈Õ◊¥‡ªπì§√ßÈ—§√“«‡«≈“‰¡ à∫“¬·≈– «àππÕ⬮–µÕâß Bartûs disease 18 √“¬ æ∫«à“≈—°…≥–Õ“°“√∑“ß
‰¥√â∫—‡≈Õ◊¥‡ªπìª√–®” (regular blood transfusion) §≈π‘°‘¢Õß AE Bartûs disease ·≈– Hb H disease
‚¥¬‰¡¡à º’ ªâŸ «É¬√“¬„¥‰¥√â∫— °“√µ¥— ¡“â¡ ‰¡¡à’§«“¡·µ°µà“ß°—πÕ¬“àß¡’π¬— ”§≠— ∑“ß ∂µ‘‘º≈
2.2 Non-deletional Hb H disease (Hb CS °“√µ√«®‡≈◊Õ¥∑“ßÀâÕߪƑ∫—µ°‘“√æ∫«à“ºŸªâÉ«¬∑Ë’‡ªìπ
disease) AE Bartûs disease Œ‚’¡‚°≈∫π‘¡§’“à‡©≈¬Ë’ 8.6 ± 1.3
ºâŸªÉ«¬°≈àÿ¡πÈ’‡¡◊ËÕ‡®√‘≠‡µ‘∫‚µ¡“°¢÷ÈπÕ“°“√ °./¥≈.Œ¡’“‚µ§√µ‘¡§’“à‡©≈¬’Ë√Õâ¬≈– 27.6 ± 3.9 MCV
· ¥ß∑“ߧ≈‘π‘°À≈“°À≈“¬¡“° µÈ—ß·µà¡’§«“¡ ¡§’“à‡©≈¬’Ë 51.6 ± 6.3 fL MCH §“à‡©≈¬Ë’ 15.9 ± 1.9
√ÿπ·√߇≈Á°πâÕ¬®π∂÷ß√ÿπ·√ß¡“° ºŸâªÉ«¬∫“ß√“¬¡’ pg ‚¥¬æ∫«“à°≈¡àÿ AE Bartûs disease ®–¡§’“à¢Õß
°“√‡®√‘≠‡µ‘∫‚µ™â“°«à“ª°µ‘¡’°“√‡ª≈’ˬπ·ª≈ߢÕß MCV ·≈– MCH ·µ°µà“ß®“°§π∑Ë’‡ªìπ Hb H
°√–¥°Ÿ∑”„À¡â≈’°—…≥–„∫Àπ“⇪πì·∫∫∏“≈ —´‡’¡¬’‰¥â disease °≈“૧Õ◊ §π∑‡Ë’ªπì AE Bartûs disease ¡’
·≈–Õ“®¡µ’∫—‚µ¡“â¡‚µ‰¥â §“à MCV ·≈– MCH µË”°«“àÕ¬“àß¡π’¬— ”§≠— ∑“ß
®“°°“√»÷°…“¢ÕßÀπ૬‚≈À‘µ«‘∑¬“ °Õß ∂µ‘‘‚¥¬§π∑‡Ë’ªπì‚√§∏“≈ —´‡’¡¬’™π¥‘ AE Bartûs πÈ’