If you are a “S65C carrier”  it means that you have inherited a single copy of the S65C variant from one of your parents. This is sometimes called a heterozygous carrier. Carriers might be at risk of iron loading. If you currently have normal iron levels and no symptoms, it is advised that you 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 S65C gene alteration.
  • This genotype is very unlikely to cause a clinical presentation of genetic haemochromatosis or iron overload, but may lead to mild to moderate liver (hepatic) iron overload but neither clinically manifest haemochromatosis nor iron associated extensive liver fibrosis.
  • 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