Glucose -6- Phosphate Dehydrogenase [G6PD]

INTRODUCTION &
DEFINITION .

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CAUSES ……..

• Individuals who have inherited one of the mane

G6PD mutations do not show clinical
manifestation.
• Some of patients with G6PD develop hemolytic
anemia if they are exposed or ingest any of the
followings oxidizing agents:

√ Oxidant drugs : Antibiotics , Antimalarias,
Antipyretics.

√ Favism : The hemolytic effect of ingesting of
fava beans is not observed in all individuals with
G6PD deficiency but all patients with favism have
G^PD deficiency.

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SYMPTOMS …..

GO FOR A CHECK UP AT THE NEAREST CLINIC AS SOON AS POSSIBLE

• rapid heart rate
• shortness of breath
• urine that is dark or yellow-orange
• fever
• fatigue
• dizziness
• paleness
• jaundice, or yellowing of the skin and

whites of the eyes

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How can it be prevented ?

If you have this condition, you will need to stay away from things that can trigger
hemolytic anemia. These include:

• Aspirin, and products that have
aspirin

• Certain antibiotics
• Fava beans
• Moth balls

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How is hemolytic anemia diagnosed?

Your healthcare provider may think you have hemolytic anemia based on your symptoms, your medical
history, and a physical exam. Your provider may also order the following tests:

- Complete blood count (CBC). This test measures many different parts of your blood.

- Other blood tests. If the CBC test shows that you have anemia, you may have other blood tests. These can find out
what type of anemia you have and how serious it is.

- Urine test. This can check for hemoglobin (a protein in red blood cells) and iron.

- Bone marrow aspiration or biopsy. This involves taking a small sample of bone marrow fluid (aspiration) or solid
bone marrow tissue (called a core biopsy). The sample is usually taken from the hip bones. It is checked for the number,
size, and maturity of blood cells or abnormal cells.

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How is hemolytic anemia treated?

Your healthcare provider will create a treatment plan based on:

• Your age, overall health, and medical history
• How sick you are
• The cause of the disease
• How well you handle certain medicines, treatments, or therapies
• If your condition is expected to get worse
• Your opinion or preference

The treatment for hemolytic anemia will vary depending on the cause of the illness. Treatment may include:

• Blood transfusions
• Corticosteroid medicines
• Treatment to strengthen your immune system (using intravenous immune globulin)
• Rituximab

In more severe cases, the following treatments may be needed:

• Surgery to remove the spleen
• Medicine to reduce the strength of your immune system (immunosuppressive therapy)

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Organs / systems affected by the disease

• G6PD deficiency is the most common enzymopathy of red blood cells. The clinical symptoms of
favism are jaundice, hematuria that seem to affect liver in long term.

• Most have a mild to moderate anemia, but severe, transfusion-dependent anemia can develop.
Affected individuals can potentially develop severe complications such as hypovolemic shock. In rare
cases, severe acute hemolysis has led to acute kidney failure.

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Treatment of the disease

• Treatment for G6PD deficiency consists of removing the trigger

that is causing symptoms.

• If the condition was triggered by an infection, then the underlying
infection is treated accordingly. Any current medications that may be
destroying red blood cells are also discontinued. In these cases,
most people can recover from an episode on their own.

• Once G6PD deficiency has progressed to hemolytic anemia,
however, more aggressive treatment may be required. This
sometimes includes oxygen therapy and a blood transfusion to
replenish oxygen and red blood cell levels.

• You will need to stay in the hospital while receiving these
treatments, as close monitoring of severe hemolytic anemia is
critical for ensuring a full recovery without complications.

• Folic acid and iron potentially are useful in hemolysis, although
G6PD deficiency usually is asymptomatic and the associated
hemolysis usually is short-lived.

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DISCUSSION…

1. What symptos GP6D common in Malaysia ?

• Most people with G6PD deficiency are asymptomatic. Newborn
babies known to have this condition by screening will be admitted for
a certain duration of time in the ward since they can develop jaundice
(yellowish discoloration of the skin and sclera) rapidly, due to
excessive hemolysis

2. What sign symptoms due to anaemia ?

• looks pale •rapid heart beat (palpitations)
• lethargic or tiredness in •difficulty in breathing
• the older child dizziness •chest pain

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G6PD deficiency causes problems primarily
when the deficiency is complicated by the treatment
of malaria. Treatment can cause (severe) hemolysis
in G6PD-deficient patients.

Therefore, patients should be screened
for G6PD deficiency before treatment with these
potential hemolytic agents. The test used for this
purpose should be inexpensive and easy to perform,
but also should diagnose heterozygous women
reliably.

1. Nagalla, S., MD. (2021, July 19). Glucose-6- References

Phosphate Dehydrogenase (G6PD) Deficiency: 5. NORD - National Organization for Rare Disorders.
Practice Essentials, Pathophysiology, Etiology. (2017, June 29). Glucose-6-Phosphate
Emedicine. Dehydrogenase Deficiency.

https://emedicine.medscape.com/article/200390- https://rarediseases.org/rare-diseases/glucose-6-

overview phosphate-dehydrogenase-deficiency/

2. Herndon, M. J. S. (2018a, December 4). G6PD 6. G6PD Deficiency (for Parents) - Nemours
Deficiency. Healthline. KidsHealth. (2018, July 1). Kidshealth.
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phosphate-dehydrogenase-deficiency
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4. G6PD gene: MedlinePlus Genetics. (2014, May 1). phosphate-dehydrogenase#purpose
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https://medlineplus.gov/genetics/gene/g6pd/

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