G6PD Deficiency Diagnosis and Management

Genetic Basis and Clinical Manifestations

G6PD deficiency is definitively a genetic disorder with X-linked inheritance, according to the American College of Medical Genetics 1, 2
Common variants of G6PD deficiency include G6PD Mediterranean and G6PD African variant, which have different geographic distributions and clinical manifestations 3, 4

Screening for G6PD deficiency is recommended before starting therapy with oxidant drugs in patients with predisposing racial or ethnic backgrounds, as suggested by the Infectious Diseases Society of America 3, 5
Qualitative screening is sufficient for initial assessment, but quantitative testing may be needed to determine the degree of deficiency, according to the American College of Medical Genetics 4, 5
Medications to avoid in G6PD-deficient patients include dapsone, primaquine, and methylene blue, due to the risk of hemolysis 4, 5

Negative screening tests do not completely rule out G6PD deficiency, as some variants may show normal enzyme activity between hemolytic episodes, as noted by the Clinical Infectious Diseases society 3
First-degree relatives of patients with G6PD deficiency should be considered for testing, and immediate discontinuation of potentially hemolytic medications is essential if signs of hemolysis occur, as recommended by the Praxis Medical Insights guidelines 5