Genotype | Risk for iron overload and its complications* | Testing/interventions |
C282Y/C282Y -or- C282Y/H63D | - Increased (1% in women to approximately 28% in men) for C282Y/C282Y. Lower in C282Y/H63D.
- Sex and age-related (generally after menopause in women or after age 40 in men).
- May be further increased by other inherited or acquired conditions.¶
| - If not obtained previously, obtain iron studies (can defer until adulthood).
- Counsel first-degree relatives about the risk of inheriting the variant and the risk of possible iron overload, with shared decision-making regarding genetic testing and/or iron studies.
|
C282Y/wildtype -or- H63D/wildtype -or- H63D/H63D | - Likely to be similar to the general population.
- May be increased by other inherited or acquired conditions.¶
| - Iron studies are generally not required unless indicated for another reason.¶
- For C282Y heterozygotes, counsel first-degree relatives about the risk of inheriting the variant and possible iron overload, with shared decision-making regarding genetic testing and/or iron studies.
|
Negative for C282Y and H63DΔ | - Likely to be similar to the general population.
- May be increased by other inherited or acquired conditions.¶
| - Iron studies are generally not required unless indicated for another reason.¶
- Counseling and testing of first-degree relatives generally not indicated unless previously obtained iron studies are abnormal.
|