Hemochromatosis classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Classification

Recently, a classification has been developed (with chromosome locations):

Description	OMIM	Mutation	Locus
Haemochromatosis type 1: "classical"-haemochromatosis	235200	HFE	6p21.3
Haemochromatosis type 2A: juvenile haemochromatosis	602390	hemojuvelin ("HJV", also known as HFE2)	1q21
Haemochromatosis type 2B: juvenile haemochromatosis	606464	hepcidin antimicrobial peptide (HAMP) or HFE2B	19q13
Haemochromatosis type 3	604720	transferrin receptor-2 (TFR2 or HFE3)	7q22
Haemochromatosis type 4 autosomal dominant haemochromatosis (all others are recessive), gene mutation	604653	ferroportin (SLC11A3)	2q32