title: Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required.
abstract: OBJECTIVE
  Hereditary hemochromatosis has not been fully evaluated in the non-Ashkenazi population and is considered to be relatively rare. After ascertaining three unrelated hereditary hemochromatosis families of North African Jewish origin with the HFE C282Y/C282Y genotype, we evaluated the C282Y and H63D allele frequencies among the different Jewish ethnic groups in Israel, in particular North African Jews.
  
  
  METHODS
  Data were collected from three Israeli Medical Centers. North African, Oriental, Yemenite, and Sephardic Jewish healthy individuals were assessed for the C282Y and H63D alleles.
  
  
  RESULTS
  The C282Y allele frequency was 1.02% (6/586 chromosomes), and the H63D allele frequency was 13.82% (81/586 chromosomes) in the North African Jewish group. The C282Y allele was not detected in the other non-Ashkenazi groups. The H63D allele frequency was 12.5% (38/304 chromosomes) in Oriental Jews, 14.9% (14/94 chromosomes) in Yemenite Jews, and 9.3% (11/118 chromosomes) in Sephardic Jews.
  
  
  CONCLUSIONS
  Hereditary hemochromatosis is underrecognized among North African Jews, who have carrier frequencies of 1/58 and 1/4 for C282Y and H63D, respectively. HFE-hereditary hemochromatosis is not rare among this population as currently thought and merits increased awareness to prevent endpoint disease. The frequent occurrence of beta-thalassemia trait and HFE-H63D in non-Ashkenazi Jews raises the possibility of genetic interactions contributing to iron overload when coinherited and requires further evaluation.
authors.affiliation: Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel. oreish@post.tau.ac.il
authors.forename: Orit
authors.initials: O
authors.lastname: Reish
authors.forename: Niva
authors.initials: N
authors.lastname: Shefer-Kaufmann
authors.forename: Daphne Chapman
authors.initials: DC
authors.lastname: Shimshoni
authors.forename: Paul
authors.initials: P
authors.lastname: Renbaum
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
authors.forename: Hillel
authors.initials: H
authors.lastname: Steiner
authors.forename: Micha
authors.initials: M
authors.lastname: Rapoport
authors.forename: Ephrat
authors.initials: E
authors.lastname: Levy-Lahad
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
mesh_terms: D000352:Africa, Northern / Q000208:ethnology; D000483:Alleles; D005787:Gene Frequency; D006432:Hemochromatosis / Q000208:ethnology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009018:Morocco / Q000208:ethnology
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins