Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain)

Annals of Hematology
Paloma RoperoAna Villegas

Abstract

For centuries in Europe, population movements have contributed to ethnic groups, cultures, and consequently, inheritance mixing. There are certain genetic diseases such as hereditary hemochromatosis whose distribution is directly related to the population movements. The objective of the present investigation was to determine the C282Y and H63D mutation frequency of the HFE gene in a cohort study of 1,000 neonates in the Community of Madrid (Spain), thus contributing to the HFE gene mutations distribution research in Europe and establishing the origin of the mutations in Spain. The allelic frequency of C282Y mutation was 1.7% (CI 95% 1.1-2.3) and the H63D allele was present in 16.4% of chromosomes (CI 95% 14.8-18). In Spain, the presence of C282Y mutation and its distribution could be due more to Celtic than to Viking legacy, whereas it is assumed that the one in relation to the H63D variant occurred in the Basque Country during the Paleolithic Period.

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Citations

Apr 3, 2007·Annals of Hematology·Sarita AgarwalM Pradhan
Feb 7, 2007·Annals of Hematology·Paloma RoperoAna Villegas
Jul 18, 2008·Annals of Hematology·Néstor Walter SoriaNelia Marta Gerez de Burgos
Jan 20, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Orit ReishGheona Altarescu
Jun 16, 2011·Croatian Medical Journal·Grazyna AdlerAndrzej Ciechanowicz
Feb 22, 2008·Blood Cells, Molecules & Diseases·Isabel Cristina Avila-GomezCarlos Velez-Pardo
Feb 7, 2018·Annals of Hematology·Nuria ArandaUNKNOWN Defensas Study investigators
Mar 9, 2017·The Cochrane Database of Systematic Reviews·Elena BuzzettiKurinchi Selvan Gurusamy
Dec 15, 2015·Environmental Monitoring and Assessment·G ZambonG Brambilla
Feb 10, 2021·International Journal of Environmental Research and Public Health·Ana B PeinadoRocío Cupeiro

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