Clinical features: Glucose-6-phosphate dehydrogenase deficiency is the most common disease-producing enzyme deficiency in humans, affecting an estimated 400 million people worldwide. More than 300 variants of the G6PD enzyme have been reported. G6PD confers protection against malaria and this probably accounts for its high frequency. Males with G6PD deficiency are usually asymptomatic until exposed to certain environmental triggers including: some drugs, broad beans (fava beans) and infections. These can cause an acute haemolytic anaemia, due to the breakdown of red blood cells. Some variants of the condition can present with prolonged neonatal jaundice. Once the diagnosis is made, avoidance of known triggers is essential. The prognosis in affected males is good. The diagnosis is confirmed by measurement of both the enzyme activity of red blood cell G6PD and the amount of G6PD protein.
Incidence: G6PD deficiency is particularly prevalent in African, Asian and Mediterranean populations. World Health Organisation WHO data suggests that up to 25% of the male population in West, Central and East Africa may be affected.
Inheritance : X-linked recessive.
Gene: Glucose-6-phosphate dehydrogenase deficiency is caused by mutations in G6PD on the X chromosome.
Carrier testing: Yes, by enzyme analysis.
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Glucose-6-phosphate dehydrogenase deficiency