G6PD deficiency (Glucose-6-Phosphate Dehydrogenase Deficiency)

What is G6PD deficiency?

G-6-PD deficiency is a hereditary, sex-linked enzyme defect that results in the breakdown of red blood cells when the person is exposed to the stress of infection or certain drugs.

Statistics on G6PD deficiency?

G-6-PD deficiency affects 400 million people worldwide. The highest prevalence rates (with gene frequencies from 5-25%) are found in tropical Africa, the Middle East, tropical and subtropical Asia, some areas of the Mediterranean, and Papua New Guinea.

Risk Factors for G6PD deficiency

Risk factors are being of African American descent, being male, or having a family history of G6PD deficiency. Another type of this disorder can occur in whites of Mediterranean descent. This form is also associated with acute episodes of hemolysis. Episodes are longer and more severe than in the other types of the disorder.

Progression of G6PD deficiency

Spontaneous recovery from this condition is the usual outcome.

How is G6PD deficiency Diagnosed?

Low red blood cell count and hemoglobin

Elevated bilirubin levels

Elevated serum LDH

Low serum haptoglobin

Prognosis of G6PD deficiency

Most individuals with G-6-PD deficiency do not need treatment.

How is G6PD deficiency Treated?

If the cause is an infection, it should be treated. If the cause is a drug, the offending agent should be stopped. People with the Mediterranean form, or those in hemolytic crisis may occasionally require transfusions.

G6PD deficiency References

[1] Beutler E: G6PD deficiency. Blood 1994 Dec 1; 84(11): 3613-36[Medline]. [2] Beutler E: Glucose-6-phosphate dehydrogenase deficiency. N Engl J Med 1991 Jan 17; 324(3): 169-74[Medline]. [3] Beutler E, Westwood B, Prchal JT: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 1992 Jul 1; 80(1): 255-6[Medline]. [4] eMEDICINE[5] MEDLINE Plus[6] Valaes T, Drummond GS, Kappas A: Control of hyperbilirubinemia in glucose-6-phosphate dehydrogenase- deficient newborns using an inhibitor of bilirubin production, Sn- mesoporphyrin. Pediatrics 1998 May; 101(5): E1[Medline].