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[Genetics of hereditary iron overload].

Abstract

The classification of hereditary abnormalities of iron metabolism was recently expanded and diversified. Genetic hemochromatosis now corresponds to six diseases, namely classical hemochromatosis HFE 1; juvenile hemochromatosis HFE 2 due to mutations in an unidentified gene on chromosome 1; hemochromatosis HFE 3 due to mutations in the transferrin receptor 2 (TfR2); hemochromatosis HFE 4 caused by a mutation in the H subunit of ferritin; and hemochromatosis HFE 6 whose gene is hepcidine (HAMP). Systemic iron overload is also associated with aceruloplasminemia, atransferrinemia and the "Gracile" syndrome caused by mutations in BCS1L. The genes responsible for neonatal and African forms of iron overload are unknown. Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; Hallervorden-Spatz syndrome is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--cataract syndrome due to a mutation within the L-ferritin gene. In addition to this wide range of genetic abnormalities, two other features characterize these iron disorders: 1) most are transmitted by an autosomal recessive mechanism, but some, including hemochromatosis type 4, have dominant transmission; and 2) most correspond to cytosolic iron accumulation while some, like Friedreich's ataxia, are disorders of mitochondrial metabolism.

Authors+Show Affiliations

,

UMR 6061, Faculté de Médecine CS34317-2, Avenue du Pr. Léon Bernard 35043-Rennes Cedex France.

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Source

Bulletin de l'Academie nationale de medecine 188:2 2004 pg 247-62; discussion 262-3

MeSH

Hemochromatosis
Humans
Iron Overload
Mutation

Pub Type(s)

English Abstract
Journal Article
Review

Language

fre

PubMed ID

15506716

Citation

Le Gall, Jean-Yves, et al. "[Genetics of Hereditary Iron Overload]." Bulletin De l'Academie Nationale De Medecine, vol. 188, no. 2, 2004, pp. 247-62; discussion 262-3.
Le Gall JY, Jouanolle AM, Fergelot P, et al. [Genetics of hereditary iron overload]. Bull Acad Natl Med. 2004;188(2):247-62; discussion 262-3.
Le Gall, J. Y., Jouanolle, A. M., Fergelot, P., Mosser, J., & David, V. (2004). [Genetics of hereditary iron overload]. Bulletin De l'Academie Nationale De Medecine, 188(2), pp. 247-62; discussion 262-3.
Le Gall JY, et al. [Genetics of Hereditary Iron Overload]. Bull Acad Natl Med. 2004;188(2):247-62; discussion 262-3. PubMed PMID: 15506716.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Genetics of hereditary iron overload]. AU - Le Gall,Jean-Yves, AU - Jouanolle,Anne-Marie, AU - Fergelot,Patricia, AU - Mosser,Jean, AU - David,Véronique, PY - 2004/10/28/pubmed PY - 2005/4/15/medline PY - 2004/10/28/entrez SP - 247-62; discussion 262-3 JF - Bulletin de l'Academie nationale de medecine JO - Bull. Acad. Natl. Med. VL - 188 IS - 2 N2 - The classification of hereditary abnormalities of iron metabolism was recently expanded and diversified. Genetic hemochromatosis now corresponds to six diseases, namely classical hemochromatosis HFE 1; juvenile hemochromatosis HFE 2 due to mutations in an unidentified gene on chromosome 1; hemochromatosis HFE 3 due to mutations in the transferrin receptor 2 (TfR2); hemochromatosis HFE 4 caused by a mutation in the H subunit of ferritin; and hemochromatosis HFE 6 whose gene is hepcidine (HAMP). Systemic iron overload is also associated with aceruloplasminemia, atransferrinemia and the "Gracile" syndrome caused by mutations in BCS1L. The genes responsible for neonatal and African forms of iron overload are unknown. Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; Hallervorden-Spatz syndrome is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--cataract syndrome due to a mutation within the L-ferritin gene. In addition to this wide range of genetic abnormalities, two other features characterize these iron disorders: 1) most are transmitted by an autosomal recessive mechanism, but some, including hemochromatosis type 4, have dominant transmission; and 2) most correspond to cytosolic iron accumulation while some, like Friedreich's ataxia, are disorders of mitochondrial metabolism. SN - 0001-4079 UR - https://www.unboundmedicine.com/medline/citation/15506716/[Genetics_of_hereditary_iron_overload]_ L2 - http://www.diseaseinfosearch.org/result/3874 DB - PRIME DP - Unbound Medicine ER -