primary hemochromatosis
Types
classical hereditary hemochromatosis (HFE1): HFE mutations at 6p21.3
juvenile hemochromatosis (HFE2s)
- HFE2A: HJV (hemojuvelin) (MIM.608274)
- HFE2B: HAMP mutations (MIM.606464)
hemochromatosis type 3 (HFE3) (MIM.604250) is an autosomal recessive disorder. It is caused by mutation in the gene encoding transferrin receptor-2 (TFR2) (MIM.604720), which maps to 7q22.
hemochromatosis type 4 (HFE4) (MIM.606069) is an autosomal dominant disorder. It is caused by mutation in the SLC40A1 gene (MIM.604653), which encodes ferroportin and maps to 2q32.
Etiology
HFE gene mutations
HFE2A: HJV (hemojuvelin) (MIM.608274)
HFE2B: HAMP mutations (MIM.606464)
HFE3: transferrin receptor-2 (TFR2) (MIM.604720) at 7q22.
HFE4: SLC40A1 gene (MIM.604653) encoding ferroportin at 2q32.
References
Pietrangelo A. Hereditary hemochromatosis—a new look at an old disease. N Engl J Med. 2004 Jun 3;350(23):2383-97. PMID: 15175440
Roy CN, Andrews NC. Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. Hum Mol Genet. 2001 Oct 1;10(20):2181-6. PMID: 11673399
Griffiths W, Cox T. Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. Hum Mol Genet. 2000 Oct;9(16):2377-82. PMID: 11005792