Haemochromatosis

Iron overload.

Adult hereditary haemochromatosis

Pathology

Mutations in HFE gene (6p): C282Y (tyrosine for cysteine at position 282) & H63D (aspartate for histidine at position 63).

Epidemiology

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).

Clinical presentation

Incomplete penetrance. Most often, liver failure. Other features:

Diagnosis

Treatment

Phlebotomy (500ml once weekly until ferritin 10–20 mg/l), then once every 3/12 monitoring serum ferritin.

Other forms

Juvenile—HFE2 (1q)
Sicilian families—TfR2 (7q) (transferrin receptor). (C Camaschella, et al. Nat Genet 25:14, 2000.)