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primary hemochromatoses

Friday 21 November 2003

Types

- classical primary hemochromatosis (HFE1) (MIM.235200): HFE mutations at 6p21.3 (MIM.235200)

- juvenile hemochromatosis (HFE2s) (MIM.602390)

  • HFE2A: HJV mutations (hemojuvelin) (MIM.608274)
  • HFE2B: HAMP mutations (hepcidin antimicrobial peptide) (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

- HFE1: 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

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