Hemochromatosis

Definition:

Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body.

References:

[1]. Antonella Roetto, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003 Jan;33(1):21-2. [Content Brief]

[2]. C Camaschella, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 2000 May;25(1):14-5. [Content Brief]

[3]. George Papanikolaou, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004 Jan;36(1):77-82. [Content Brief]

[4]. J Kato, et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet. 2001 Jul;69(1):191-7. [Content Brief]

[5]. J N Feder, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996 Aug;13(4):399-408. [Content Brief]

[6]. Massimo Franchini, et al. Hereditary hemochromatosis. Hematology. 2005 Apr;10(2):145-9. [Content Brief]

[7]. Massimo Franchini, et al. Recent advances in hereditary hemochromatosis. Ann Hematol. 2005 Jun;84(6):347-52. [Content Brief]

[8]. O T Njajou, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001 Jul;28(3):213-4. [Content Brief]

[9]. Paul C Adams, et al. Haemochromatosis. Lancet. 2007 Dec 1;370(9602):1855-60. [Content Brief]

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