Diagnosis and treatment of genetic haemochromatosis].

Nils Thorm Milman

Rheumatologisk Klinik TA, Rigshospitalet, Blegdamsvej 9, 2100 København Ø, Denmark. nils.mil@dadlnet.dk

Ugeskrift for laeger 2013 Apr 15

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Genetic haemochromatosis is a complex disorder/disease, which can be caused by a multiplicity of mutations in genes involved in iron metabolism being located on different chromosomes. In Caucasians, mutations in the HFE-gene account for the most common form of haemochromatosis (type 1). Non-HFE-haemochromatoses are less frequent and consist of juvenile haemochromatosis (type 2A and 2B) and TRF2-related haemochromatosis (type 3), which all respond to phlebotomies. The others comprise ferroportin disease (type 4A) atypical ferroportin disease (type 4B), acoeruloplasminaemia, atransferrinaemia and DMT1-associated haemochromatosis.