- Adult hereditary haemochromatosis
- Juvenile hereditary haemochromatosis
- Blood transfusions (e.g., β-thalassaemia, sideroblastic anaemia)
- Oral iron therapy
Adult hereditary haemochromatosis
Mutations in HFE gene (6p): C282Y (tyrosine for cysteine at position 282)
& H63D (aspartate for histidine at position 63).
1 in 300 of UK population is homozygous for the C282Y mutation.
Celtic and Sicilian populations. Women present later than men
(natural phlebotomy via menstruation).
Most often, liver failure.
- bronze skin
- diabetes mellitus
- arthropathy (MCP joints, chondrocalcinosis, pseudogout)
- cardiomyopathy (juvenile haemochromatosis)
- ferritin > 300 mg/l, transferrin saturation > 55%
- liver biopsy
- genetic testing for C282Y/H63D (10% false negative in UK)
Phlebotomy (500ml once weekly until ferritin 10–20 mg/l),
then once every 3/12 monitoring serum ferritin.
Sicilian families—TfR2 (7q) (transferrin receptor).
(C Camaschella, et al. Nat Genet 25:14, 2000.)