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

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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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Acknowledgement

This work has been supported with a grant of Comunidad de Madrid (08.7/0021.1/2003)

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Authors and Affiliations

  1. Servicio de Hematología y Hemoterapia, Hospital Clinico San Carlos, Madrid, 28041, Spain

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

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  1. Paloma Ropero
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  2. Olga Briceño
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  3. Marta Mateo
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  4. Marta Polo
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  7. Ana Villegas
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Correspondence to Ana Villegas.

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Ropero, P., Briceño, O., Mateo, M. et al. Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain). Ann Hematol 85, 323–326 (2006). https://doi.org/10.1007/s00277-006-0094-4

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  • DOI: https://doi.org/10.1007/s00277-006-0094-4

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