From the Guidelines
Yes, females can have G6PD deficiency, though it's less common than in males. G6PD deficiency is an X-linked genetic disorder, meaning the gene responsible is located on the X chromosome. Since females have two X chromosomes, they need mutations in both copies to develop the full condition. More commonly, females are carriers with one normal and one affected X chromosome. These female carriers can still experience symptoms, especially if they have unfavorable X-chromosome inactivation (where a higher proportion of normal X chromosomes are inactivated), as noted in the context of other X-linked disorders 1. Symptoms in affected females include hemolytic anemia triggered by certain medications, infections, or foods like fava beans. The severity varies widely in females due to this mosaic pattern of X-chromosome expression.
Key Considerations
- Female carriers should still avoid known triggers and be aware of their status, particularly before taking medications known to cause hemolysis in G6PD-deficient individuals.
- Screening for G6PD deficiency is recommended upon entry into care or before starting therapy with an oxidant drug in patients with a predisposing racial or ethnic background 1.
- The management and awareness of G6PD deficiency are crucial to prevent complications, especially in females who might be carriers or have the condition due to extreme nonrandom X-chromosome inactivation.
From the Research
G6PD Deficiency in Females
- G6PD deficiency is an X-linked genetic disorder, meaning the gene responsible for the condition is located on the X chromosome 2, 3, 4.
- Females can be carriers of G6PD deficiency, having one normal and one mutated X chromosome, but they are less likely to express the condition than males 4, 5.
- Heterozygous females, who have one normal and one mutated X chromosome, may not exhibit the same level of protection against malaria as hemizygous males, who have only one X chromosome with the mutated gene 5.
- Studies have shown that hemizygous males with G6PD deficiency have significant protection against severe, life-threatening malaria, while heterozygous females do not exhibit the same level of protection 5.
Clinical Implications
- G6PD deficiency can cause a range of clinical symptoms, including neonatal jaundice, acute hemolytic anemia, and chronic nonspherocytic hemolytic anemia 2, 3, 6.
- Females with G6PD deficiency may be at risk of developing these symptoms, particularly if they are exposed to triggers such as certain medications or infections 2, 3, 6.
- Screening programs for G6PD deficiency are important, particularly in populations where the condition is common, to prevent hemolysis and other complications 3, 6.