Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most commonenzyme deficiencyin the world.
Approximately 400 million people are affected worldwide.
There is great variability in severity based on which mutation is inherited.
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G6PD is an enzyme found in red blood cells that keeps certain toxins from building up in the cells.
If only the mother carries the X-linked recessive disease, the chances of children inheriting depend on gender.
Symptoms
Symptoms depend on which mutation you inherit.
Some people may never be diagnosed, as no symptoms are present.
First, your physician must suspect that you have hemolytic anemia (the breakdown of red blood cells).
This is usually confirmed by acomplete blood countor a reticulocyte count.
Reticulocytes are immature red blood cells sent from the bone marrow in response to the anemia.
Bilirubin is released from red blood cells when they are broken down and causes jaundice during hemolytic crises.
In the process of determining the diagnosis, your physician will need to rule out autoimmune hemolytic anemia.
If G6PD deficiency is suspected, a G6PD level can be sent off.
A low G6PD level is consistent with G6PD deficiency.
Treatment
Avoid medications or foodsthat trigger hemolytic (red blood cell breakdown) crises.
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