ABSTRACT C282Y/C282Y genotype is the prevalent genotype in Hereditary Haemochromatosis (HH), however, other genotypes have been associated with the disease. The objective of our study was to

analyse the frequency of the three main mutations of HFE gene in HH patients and controls from the Basque population with differential genetic characteristics. Thirty five HH patients and

116 controls were screened for C282Y, H63D and S65C mutations using a PCR–RFLP technique. The association of HLA-A and-B alleles and HFE mutations was also studied in Basque controls. The

frequency of C282Y homozygotes in the group of patients was only 57%. The rest of the patients presented heterogeneous genotypes, including compound heterozygotes: 11% of them were

characteristics of Basques could explain the heterogeneity of genotypes in HH patients of this group. Further studies should be carried out to confirm these findings although the implication

of other genetic or external factors in the development of HH is suggested. SIMILAR CONTENT BEING VIEWED BY OTHERS THE ANCESTRAL HAPLOTYPE MARKERS HLA -A3 AND B7 DO NOT INFLUENCE THE

LIKELIHOOD OF ADVANCED HEPATIC FIBROSIS OR CIRRHOSIS IN _HFE_ HEMOCHROMATOSIS Article Open access 13 May 2023 BLOOD DONOR BIOBANK AS A RESOURCE IN PERSONALISED BIOMEDICAL GENETIC RESEARCH

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Hospitalario Donostia, San Sebastián, Spain MaDolores de Juan, Ana Reta, Jasone Pozueta, Alvaro Prada & Emilio Cuadrado * Gastroenterology Service, Hospital de Mendaro, Guipuzcoa, Spain

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ARTICLE CITE THIS ARTICLE de Juan, M., Reta, A., Castiella, A. _et al._ HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. _Eur J Hum Genet_ 9, 961–964

(2001). https://doi.org/10.1038/sj.ejhg.5200731 Download citation * Received: 14 June 2001 * Revised: 12 September 2001 * Accepted: 18 September 2001 * Published: 07 February 2002 * Issue

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H63D mutation