Hemochromatosis classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Hemochromatosis is divided on basis of it's etiology. Hereditary hemochromatosis is caused by defect in gene and secondary hemochromatosis is caused by excess absorption of iron, repeated blood transfusions, or excess oral intake, typically in patients with disorders of erythropoiesis.

Classification

Hemochromatosis can be classified on basis of mode of entry of iron source:

Entral

Hereditary hemochromatosis: Patients having genetic mutation that affect any of the proteins that limit the entry of iron into the blood.

Placental

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