Jewish Genetic Disease Consortium

Jewish population(s) affected:
Kurdish

Carrier frequency in affected Jewish population(s):
About 1 in 2 or more Kurdish Jewish males have the condition and 1 in 2 females are carriers.

Presence in other population groups:
Common in African American, Saudi, Sardinian males, some African populations, and Asian.

Symptoms:
Individuals with this disorder do not show signs or symptoms until their red blood cells are exposed certain foods (such as fava beans), medicines (such as sulfa drugs or anti-malaria medication), or stress from a bacterial or viral infection. Symptoms include episodic hemolytic anemia (premature destruction of red blood cells) that leads to dark urine, enlarged spleen, fatigue, pallor, rapid heart rate, shortness of breath, and yellowing of the skin (jaundice). Many people with G6PD never have symptoms of the condition. Males are more prone to symptoms than females because they have one X chromosome with the mutation, while females have two X chromosomes (one with the mutation, one without).

Age of onset of symptoms:
Varies

Impact on lifespan:
By avoiding the triggers and receiving treatment quickly for episodes, lifespan can be normal.

What causes the features of the disease:
Mutations in the gene called G6PD cause the enzyme glucose-6-phosphate dehydrogenase to work less than normal. This enzyme protects cells against oxidative stress and is important in preventing the breakdown of red blood cells.

Treatment or management:
It is recommended that people with G6PD avoid a long list of medications and foods to prevent the hemolytic anemia. This list can be obtained from a medical provider. When symptoms occur treatment includes medicines to treat infections, stopping any medications that cause the destruction of red blood cells, and occasionally blood transfusions.

Carrier screening:
Two common mutations in African descent detect 99%, 5 common mutations detect 90% of US mutations. Preconception carrier screening is not recommended, as symptoms of the disease – when present – can be prevented or controlled, and there is generally no impact on lifespan.

For more information:

NIH: http://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency