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Balearic archipelago: three islands, three beta-thalassemia population patterns

Authors

  • H López-Escribano,

    1. Servicio de Análisis Clínicos
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  • MM Parera,

    1. Servicio de Análisis Clínicos
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  • P Guix,

    1. Servicio de Análisis Clínicos
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  • JM Serra,

    1. Servicio de Hematología, Hospital Universitario Son Espases, Ctra. Valldemossa, 79, 07010 Palma, Illes Balears, Spain
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  • A Gutierrez,

    1. Servicio de Hematología, Hospital Universitario Son Espases, Ctra. Valldemossa, 79, 07010 Palma, Illes Balears, Spain
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  • D Balsells,

    1. Servicio de Análisis Clínicos, Hospital Can Misses, Corona s/n. 07800 Eivissa, Illes Balears, Spain
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  • E Oliva-Berini,

    1. Servicio de Hematología, Hospital Mateu Orfila, Avda Ronda s/n, Malbuger, 07701 Maó, Illes Balears, Spain
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  • JA Castro,

    1. Institut Universitari d’Investigació en Ciències de la Salut (IUNICS) i Departament de Biologia, Laboratori de Genètica, Universitat de les Illes Balears, Ctra. Valldemossa Km 7.5, 07122 Palma, Illes Balears, Spain
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  • MM Ramon,

    1. Institut Universitari d’Investigació en Ciències de la Salut (IUNICS) i Departament de Biologia, Laboratori de Genètica, Universitat de les Illes Balears, Ctra. Valldemossa Km 7.5, 07122 Palma, Illes Balears, Spain
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  • A Picornell

    Corresponding author
    1. Institut Universitari d’Investigació en Ciències de la Salut (IUNICS) i Departament de Biologia, Laboratori de Genètica, Universitat de les Illes Balears, Ctra. Valldemossa Km 7.5, 07122 Palma, Illes Balears, Spain
      Antònia Picornell, Laboratori de Genètica, Universitat de les Illes Balears, Ctra. Valldemossa Km 7.5, 07122 Palma, Illes Baleares, Spain.
      Tel.: 34 971 172050;
      fax: 34 971 173184;
      e-mail: apicornell@uib.es
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Antònia Picornell, Laboratori de Genètica, Universitat de les Illes Balears, Ctra. Valldemossa Km 7.5, 07122 Palma, Illes Baleares, Spain.
Tel.: 34 971 172050;
fax: 34 971 173184;
e-mail: apicornell@uib.es

Abstract

López-Escribano H, Parera MM, Guix P, Serra JM, Gutierrez A, Balsells D, Oliva-Berini E, Castro JA, Ramon MM, Picornell A. Balearic archipelago: three islands, three beta-thalassemia population patterns.

The mutation spectrum of 175 β-thalassemia (β-thal) carriers, identified in pilot carrier screening on 22,713 individuals from Balearic Islands (Spain), is reported. The β0 CD39 (C>T) mutation is the most frequent (61.1%), followed by β+ IVS-I-110 (G>A) (12.0%), β+ IVS-I-6 (T>C) and β0 IVS-1-1 (G>A) (3.4% both) and eight other rare mutations (2.9–0.6%); with a distinct prevalence and distribution between islands. Minorca shows the highest prevalence in Iberian populations, with a single mutation, CD39 (C>T), present in most β-thal carriers. Ibiza is the only Western Mediterranean population where the most frequent β-thal mutation is IVS-I-110 (G>A). These results can be explained by a combination of historical–demographic characteristics together with evolutionary forces such as founder effect, genetic drift and probably selection by malaria. Knowledge of the mutational spectrum in the Balearic Islands will enable to optimize mutation detection strategy for genetic diagnosis of β-thal in these islands.

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