Glucose-6-phosphate dehydrogenase deficiency

G6PD deficiency is one of the most common inherited disorders in the world. It does not affect life expectancy. Almost all patients are asymptomatic throughout their lives, and it should be considered a benign condition. Destruction of RBCs, leading to anemia and causing fatigue and jaundice, occurs when affected people are subjected to a challenge. This may be a drug (for example, a sulfonamide antibiotic or an antimalarial medication), an infection of any description, or the consumption of broad beans. The condition is due to lack of an enzyme, and the underlying genetic defect is carried on the X chromosome, making males far more likely to be affected than females. Compared with unaffected newborns, affected male children are at twice the risk of developing jaundice in the neonatal period. At the time of family planning or pregnancy, professional caregivers should understand this and counsel parents if the mother is known to be a carrier of the defective gene.

Genetic counseling: this condition is X-linked. This means that half of the male offspring of an affected woman will have the condition, and half of the female offspring will be carriers if the mother is heterozygous; all of the sons of a homozygous mother will be affected. None of the male offspring of an affected man will have the condition, and all of the female offspring will be carriers. Females are nearly always asymptomatic throughout life. Family members should be tested if they are found to be anemic.

NORD: Glucose-6-phosphate dehydrogenase deficiency Opens in new window