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Titolo:
HFE gene and hereditary hemochromatosis: A HuGE review
Autore:
Hanson, EH; Imperatore, G; Burke, W;
Indirizzi:
Ctr Dis Control & Prevent, Div Diabet Translat, Atlanta, GA USA Ctr Dis Control & Prevent Atlanta GA USA iabet Translat, Atlanta, GA USA Univ Washington, Dept Med Hist & Eth, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 ed Hist & Eth, Seattle, WA 98195 USA Univ Washington, Dept Med, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 ton, Dept Med, Seattle, WA 98195 USA USAF, Sch Aerosp Med, San Antonio, TX USA USAF San Antonio TX USAUSAF, Sch Aerosp Med, San Antonio, TX USA
Titolo Testata:
AMERICAN JOURNAL OF EPIDEMIOLOGY
fascicolo: 3, volume: 154, anno: 2001,
pagine: 193 - 206
SICI:
0002-9262(20010801)154:3<193:HGAHHA>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
PRIMARY-CARE PATIENTS; LONG-TERM SURVIVAL; TRANSFERRIN RECEPTOR; COST-EFFECTIVENESS; IRON OVERLOAD; HLA-H; H63D POLYMORPHISMS; ITALIAN PATIENTS; C282Y MUTATION; POPULATION;
Keywords:
epidemiology; genetics; hemochromatosis; hereditary diseases; HFE gene; HLA-H gene; iron overload;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
105
Recensione:
Indirizzi per estratti:
Indirizzo: Hanson, EH 51st AMDS,PSC 3,Box 2541, APO, AP 96266 USA 51st AMDS,PSC 3,Box 2541 APO AP USA 96266 1, APO, AP 96266 USA
Citazione:
E.H. Hanson et al., "HFE gene and hereditary hemochromatosis: A HuGE review", AM J EPIDEM, 154(3), 2001, pp. 193-206

Abstract

Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and deposition in the liver, pancreas, heart, joints, and pituitary gland. Without treatment, death may occur from cirrhosis, primary liver cancer, diabetes, or cardiomyopathy. In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21.3). Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC. Homozygosity for the C282Y mutation was found in 52-100% of previous studies on clinically diagnosed probands. In this review, 5% of HHC probands were found to be compound heterozygotes (C282Y/H63D), and 1.5% were homozygous for the H63D mutation; 3.6% were C282Y heterozygotes, and 5.2% were H63D heterozygotes. In 7% of cases, C282Y and H63D mutations were not present. In the general population, the frequency of the C282Y/C282Y genotype is 0.4%. C282Y heterozygosity ranges from 9.2% in Europeans to nil in Asian, Indian subcontinent, African/Middle Eastern, and Australasian populations. The H63D carrier frequencyis 22% in European populations. Accurate data on the penetrance of the different HFE genotypes are not available. Extrapolating from limited clinicalobservations in screening studies, an estimated 40-70% of persons with theC282Y homozygous genotype will develop clinical evidence of iron overload. A smaller proportion will die from complications of iron overload. To date, population screening for HHC is not recommended because of uncertainties about optimal screening strategies, optimal care for susceptible persons, laboratory standardization, and the potential for stigmatization or discrimination.

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Documento generato il 08/07/20 alle ore 07:39:44