Genetic basis

G6PD is a homodimeric molecule, and its single subunit is encoded by an X-linked gene. As a result of the phenomenon of X-chromosome inactivation in somatic cells, female heterozygotes are genetic mosaics in whom approximately one-half of the red cells are normal and approximately one-half are G6PD-deficient. However, in some cases the ratio is imbal-anced. Therefore, clinical manifestations, such as favism, can occur in both hemizygous males and heterozygous females, but they tend to be milder in the latter, roughly in proportion to the fraction of red cells that are G6PD-deficient.

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