G6PD Deficiency in Mothers of Affected Sons
Yes, as a mother of a son with G6PD deficiency, you are definitely a carrier of the condition, which may explain your high ferritin levels.
Genetic Inheritance Pattern of G6PD Deficiency
G6PD deficiency is an X-linked recessive genetic disorder, which means:
- The gene responsible for G6PD is located on the X chromosome 1
- Males have one X chromosome (XY), so they will express the deficiency if they inherit the affected X chromosome
- Females have two X chromosomes (XX), so they need two affected X chromosomes to fully express the condition
- Mothers of affected sons must be carriers (heterozygous) or affected themselves 1
Female Carriers and Symptoms
As a carrier mother:
- You have one normal X chromosome and one with the G6PD mutation
- Due to X-chromosome inactivation (lyonization), approximately half of your red blood cells may express the G6PD deficiency
- This partial deficiency can cause:
- Mild to moderate symptoms in some situations
- Elevated ferritin levels (as you've experienced)
- Vulnerability to oxidative stress from certain medications or foods
Connection Between G6PD Deficiency and Ferritin Levels
Your high ferritin levels may be related to your carrier status because:
- G6PD deficiency can lead to episodic hemolysis (red blood cell destruction)
- Hemolysis releases iron into the bloodstream
- Increased iron turnover can elevate ferritin levels
- Even subclinical hemolysis in carriers can affect iron metabolism
Testing Recommendations
Since your son has confirmed G6PD deficiency:
- You should undergo G6PD enzyme activity testing to confirm your carrier status 1
- Genetic testing can identify the specific G6PD mutation you carry
- This information is valuable for:
- Understanding your own health risks
- Family planning decisions
- Avoiding triggers that could cause hemolytic episodes
Precautions for G6PD Carriers
As a likely carrier, you should:
- Avoid medications known to trigger hemolysis in G6PD deficiency, including certain antibiotics, antimalarials, and analgesics 1
- Be cautious with fava beans and other legumes
- Inform healthcare providers about your carrier status before any procedures or new medications
- Consider genetic counseling for future family planning
Monitoring Recommendations
- Regular monitoring of complete blood counts if you experience symptoms
- Periodic ferritin level checks
- Increased vigilance during infections or other oxidative stresses
- Watch for signs of hemolysis: fatigue, jaundice, dark urine
Understanding your carrier status is important for managing your own health and for providing context for your son's condition. The specific G6PD variant your family carries may also influence the severity and triggers for hemolytic episodes.