G6Pd Deficiency
What is it?
G6PD deficiency is a genetic abnormality that causes low amounts of an enzyme called glucose-6-phosphate dehydrogenase (G6PD) in the blood. This enzyme has an important role in many reactions in the body. Among those, G6PD helps in maintaining red blood cells healthy and keeping them functioning under stress. When there is not enough G6PD, blood cells break down prematurely, causing a reduced amount of red blood cells, a condition called anemia. Since red blood cells carry oxygen to cells of the body, when there are not enough red blood cells, there is also not enough oxygen delivered to our cells.
G6PD deficiency is inherited in an X linked fashion. This means that the defective gene lies in the X chromosome, one of the two sex chromosomes. Females have two X chromosomes whereas males have only one X chromosome and one Y chromosome. Since the mutated gene is on the X chromosome and males only have one, they have no normal gene to compensate. Thus, the deficiency is much more common in men. In females, both copies of the gene need to be mutated in order to be affected. This mutation is very prevalent in Africa and the middle east.
19 Alikes with G6Pd Deficiency
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G6Pd Deficiency.
Additional names
This group contains additional names:
- Glutathione Disorder Anemia
Signs & symptoms
Usually, patients with G6PD deficiency are asymptomatic. Symptoms may develop due to triggers causing physiologic stress such as exposure to some medications, foods, infections and more. Symptoms include shortness of breath, fatigue, dizziness, pale skin, fast heart rate, dark urine, jaundice and fever.
Diagnosis
Since this is an inherited condition, a family member with the condition may be suggestive. Also, if there is an acute anemia episode, your doctor will probably ask you questions about medications, foods and other information that may help understanding the cause for this episode.
Blood tests
-CBC (complete blood count)- This test gives information about the different cells that circulate in your blood. It includes information about white blood cells, red blood cells, and platelets. It is usually the first test the doctor will use when anemia is suspected.
Other tests that may be ordered when G6PD deficiency is suspected include
-Bilirubin
-LDH
-Haptoglobin
-Blood smear
-G6PD enzyme levels
Treatment
The most important treatment is removing the triggering causing it. If the cause is some kind of medication, it is crucial to discontinue the medication. If the cause is an underlying infection, the infection needs to be treated. In accordance with the severity of the anemia, more aggressive treatment may be needed. This may include blood transfusions, oxygen and hospitalization.
Additionally, It is important to learn which triggers to avoid. Known causes for acute hemolytic anemia due to G6PD deficiency are
some antibiotics (commonly contain "sulf" in their name)
some antimalarial drugs (commonly contain "quine" in their name)
aspirin
fava beans
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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