These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population.
    Author: Sassi R, Hmida S, Kaabi H, Hajjej A, Abid A, Abdelkefi S, Yacoub S, Maamar M, Mojaat N, Ben Hamed L, Bellali H, Dridi A, Jridi A, Midouni B, Boukef MK.
    Journal: Ann Genet; 2004; 47(4):325-30. PubMed ID: 15581829.
    Abstract:
    The studies of the HFE mutations: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 1140 chromosomes (570 Tunisian people) for the presence of the two HFE mutations by PCR-RFLP analysis. We have found that the allele frequencies are, respectively, 15.17% (+/-2.1%) for the H63D and 0.09% (+/-0.17%) for the C282Y. These results are consistent with the worldwide spread of the H63D mutation and the north European restriction of the C282Y. This study will be completed by determining whether homozygote trait for H63D and associated risk factors (beta thalassémia) can lead to iron overload in Tunisia.
    [Abstract] [Full Text] [Related] [New Search]