G6PD Deficiency in Females: Prevalence, Diagnosis, and Management

Prevalence and Inheritance Pattern

The African variant (GdA-) of G6PD deficiency is found in 10-15% of Black men and women, according to the American Academy of Family Physicians 1
The Mediterranean variant (Gdmed) of G6PD deficiency is more common in individuals from Mediterranean regions, India, and Southeast Asia, as reported by the American Academy of Family Physicians 2

The American Academy of Family Physicians recommends mandatory screening for G6PD deficiency upon entry into healthcare for individuals with predisposing racial or ethnic backgrounds, with a strong evidence level 1
Screening is particularly important before starting therapy with oxidant drugs that can trigger hemolysis, as recommended by the American Academy of Family Physicians 1
Diagnostic approaches include qualitative screening tests for initial assessment, as suggested by the American Academy of Family Physicians 1
Quantitative G6PD testing is recommended for confirmation and before administration of certain medications like tafenoquine, according to the American Academy of Family Physicians 1

Females with G6PD deficiency may experience menorrhagia (heavy menstrual bleeding) in reproductive-age women, as reported by Genetics in Medicine 3, 4
The severity of clinical manifestations depends on the specific G6PD variant, with Mediterranean variants typically causing more severe reactions than African variants, as noted by the American Academy of Family Physicians 5

First-degree relatives of patients with G6PD deficiency should be tested, as recommended by the American Academy of Family Physicians 1

Signs of hemolysis requiring immediate medical attention include dark or reddish urine, as reported by the American Academy of Family Physicians 2
Back or abdominal pain is a warning sign of hemolysis, according to the American Academy of Family Physicians 1
Jaundice is a sign of hemolysis, as noted by the American Academy of Family Physicians 2
Fatigue and pallor are signs of hemolysis, as reported by the American Academy of Family Physicians 5
Immediate discontinuation of any potentially hemolytic medication is recommended if signs of hemolysis occur, as advised by the American Academy of Family Physicians 1