If you are “S65C homozygous” it means that you have inherited 2 copies of the milder S65C variant, one from each of your biological parents. Most people with this result never develop symptoms or load iron; however if iron overload occurs it tends to be at a slower rate than people with other types of genetic haemochromatosis. If you have normal iron levels, then routine monitoring of your iron is not recommended in the absence of any symptoms. If you have high iron and/or symptoms you may be referred to the hospital for further investigation.

 

Implications for people with this genetic variant

• Iron overload is unlikely in people homozygous for the S65C gene alteration but can occur. People should contact their GP should they develop any symptoms of iron overload (What is genetic haemochromatosis? | Haemochromatosis UK).
• When homozygosity of S65C is seen in association with raised iron or transferrin saturation, other factors might usually be present (eg excess alcohol consumption, obesity).
• For people homozygote for S65C, regular iron monitoring is advised every 1-2 years to check for evidence of iron loading.
• At this time, you could become a blood donor, subject to the normal donor eligibility criteria. For more details of blood donation in your region, visit :  https://www.haemochromatosis.org.uk/can-i-donate-blood.

 

Family members 

• Both of your biological parents and any children you have will all be carriers of the S65C variant. S65C is a milder variant and very rarely causes patients to iron load even when they have 2 copies of the variant (homozygous). Therefore, no testing is recommended for any of your relatives in the absence of any symptoms.
• Testing for haemochromatosis should only be offered on clinical grounds and only when accompanied with symptoms of genetic haemochromatosis.
• Children will only have a chance of compound heterozygosity if their other parent is a carrier of the C282y or H63d.
• Children under 18 years and babies do not need to be offered testing.