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Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
by Yael Rosenberg, RN

   •  Description
   •  Symptoms
   •  Incidence and Carriers
   •  Treatment
   •  Testing
   •  Resources and More
   •  Support Group

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) is an X-linked recessive hereditary disease which involves a lack of an enzyme found in red blood cells. G6PD deficiency causes the destruction of red blood cells as a result of exposure to infection or stress, certain drugs like sulfa antibiotics, pain killers, and select antimalarial agents and certain foods namely fava beans. It is the most common human enzyme deficiency known.

Exposure to the triggers of this disorder causes destruction of red blood cells, but may still be asymptomatic. However, some individuals will exhibit symptoms of hemolytic crisis (destruction of red blood cells).
 · Pallor
 · Fatigue
 · Tachycardia –quick heart rate
 · Yellow skin
 · Shortness of breath
 · Dark colored urine

Incidence and Carriers
Disease frequency: 400 million people worldwide. approximately 50% of Kurdish males, 30% of Sardinia males, and 13% of Saudi males, and those of Sephardic Jewish decent . 11-14% of African-American males and infrequently in black females.

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.

Avoidance of triggers is key to prevent symptoms. When symptoms due occur the trigger must be stopped or treated. In addition, those with the Mediterranean form might require occasional transfusions when in hemolytic crisis.

Blood test will determine G6PD level in the blood cells.

Resources and more
G6PD Deficiency Website

Via Amba Aradam
1230173 Mestre-Venice

Support Groups
G6PD Deficiency Favism Association 

MD. Junction. Com G6PD Deficiency
Online Support Group


Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
Books: Jewish Genetic Diseases



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