Glucose-6-phosphatase dehydrogenase deficiency is the most common disease-producing enzymopathy in humans. The disease is highly polymorphic. Many variant alleles have been described and their clinical manifestations depend on the variant; the most frequent are the Mediterranean variants (severe form), the African variants (moderate form), the Mahidol (moderate form) and Canton (severe form) variants in South East Asia. Rare and more severe forms of G6PD deficiency exist in association with chronic non-spherocytic hemolytic anaemia.
Alternative names
G-6-PD deficiency; Hemolytic anemia due to G6PD deficiency; Favism
Classification
- Defects of phagocyte function
Inheritance
X-linked
OMIM
+305900 Glucose-6-phosphate dehydrogenase; G6PD anemia, nonspherocytic hemolytic, due to G6PD deficiency, included
Cross references
Phenotypically related immunodeficiencies
IDR factfile for p22phox deficiency
Incidence
Incidence is not known.