Monitoring
If asymptomatic, C282Y homozygote with normal ferritin level at diagnosis, annual TS and ferritin are recommended.
If asymptomatic C282Y/H63D compound heterozygotes with normal ferritin level at diagnosis, 3 yearly testing of ferritin and TS is satisfactory.
If cirrhosis, surveillance for hepatocellular carcinoma with 6 monthly USS and alpha feto protein levels.
Dietary advice
Avoid: large amounts of iron- rich foods (offal, red meat & fortified breakfast cereals), vitamin supplements/tonics with iron and large doses of Vitamin C. Minimize alcohol intake, especially with meals. Tea & milk products taken with food help reduce iron absorption.
Cascade screening
Once a person with HHC is identified, family screening is recommended for all first-degree relatives for HFE mutations, ferritin and TS. In patients with HHC who have young children, it is useful to perform genotyping on the other parent to predict whether the children will need to be considered for genotyping and iron studies.
Treatment – venesection
Once the serum ferritin is above the normal range venesection will be started in secondary care. Aim is to keep ferritin <100mcg/l. Some patients may consider blood donation if well and fulfil donation criteria.
If venesection is needed and is started before 35 yr, all major hepatic morbidity can be avoided.
Once a person is affected clinically, some signs and symptoms respond more readily to venesection.
- Fatigue, abdominal pain, hepatomegaly, skin pigmentation responds very well.
- Arthralgia, glucose intolerance, NIDDM and cardiac signs improve in 40% of patients.
- Hypogonadism and impotence respond poorly.
- Cirrhosis and insulin dependant diabetes are irreversible, but venesection can reduce portal hypertension and reduce insulin requirements. Risk of hepatocellular carcinoma is not reduced if cirrhosis is already present.
Information and contacts
Useful websites
British Society of Haematology The Haemochromatosis SocietyRegional contacts
Dr Steven Masson
Consultant Hepatologist
Freeman Hospital
Newcastle upon Tyne
Dr Matt Warren
Consultant Gastroenterology
North Tyneside General Hospital
Dr David Bourn
Northern Molecular Genetics Service
Institute of Human Genetics
NE1 3BZ
Telephone: 0191 2418819