If you are a “H63d carrier”  it means that you have inherited a single copy of the H63d variant from one of your parents. This is sometimes called a heterozygous carrier. Carriers might be at risk of iron loading. If you have normal iron levels and no symptoms, you will require to have serum ferritin and transferrin saturation levels monitored every 2-3 years. If you have symptoms, you may need to be referred to the hospital for further investigations.

Implications for people with this genetic variant

• There is no significant predictable risk of iron overload in people with one copy of the H63d gene alteration.
• This genotype is very unlikely to cause a clinical presentation of genetic haemochromatosis or iron overload.
• In the presence of significant raised ferritin and transferrin saturation levels, you will need to be referred to a gastroenterologist or haematologist to eliminate other causes of iron overload.

Family members

• Testing of close relatives is only recommended if relatives present with symptoms of iron overload (What is genetic haemochromatosis? | Haemochromatosis UK)