G6PD Deficiency Features - 2
G6PD variants:
Normal G6PD
G6PD-B
G6PD-A+
G6PD-A-
African descent
20-40% have gene on X chromosome
Asn replaced by Asp at 126th amino acid
Asymptomatic normal activity
Asn replaced by Asp at 126th amino acid
Additional AA substitutions give 3 mutant forms of G6PD-A-
Most common variant among whites
10-11% males are G6PD-A-69
G6PD-med
Class III clinical features
Class I clinical features
Kurdish Jews have 3 – 50% incidence