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01-05-2006 | Original Article

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

Authors: Paloma Ropero, Olga Briceño, Marta Mateo, Marta Polo, Asunción Mora, Fernando Ataulfo González, Ana Villegas

Published in: Annals of Hematology | Issue 5/2006

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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Title: Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain)
Authors: Paloma Ropero
Olga Briceño
Marta Mateo
Marta Polo
Asunción Mora
Fernando Ataulfo González
Ana Villegas
Publication date: 01-05-2006
Publisher: Springer-Verlag
Published in: Annals of Hematology / Issue 5/2006
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-006-0094-4

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