Sephardi Disorders

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

Deficiency of G6PD (found in red blood cells) can cause a hemolytic anemia. The anemia can vary in severity from life-long anemia, to rare bouts of anemia, to no symptoms. It can also be induced by certain oxidative drugs, infections, or ingestion of fava beans. G6PD has different incidences in different ethnic populations. It occurs with highest frequency in areas with a high incidence of malaria, such as Africa, the Mediterranean, and Asia.

Disease frequency:It affects ~400 million people worldwide and is the most common human enzyme deficiency known. G6PD deficiency is thought to occur in approximately 50% of Kurdish males, 30% of Sardinia males, and 13% of Saudi males. It occurs in less than 1% of North Americans, but in 11-14% of African-American males.
Carrier frequency:1 in 4 to 1 in 20 in tropical Africa, the Middle East, tropical and subtropical Asia, some areas of the Mediterranean, and Papua New Ginea.
Diagnosis:By measuring G6PD enzyme activity in blood cells.
Inheritance:X-linked recessive
Carrier testing:N/A

Technical Information on Glucose-6-Phosphate Dehydrogenase Deficiency

Additional Information:
G6PD Deficiency Website

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