β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C→T/−28 A→C

A Spanish male patient with β-thalassaemia major was studied. Compound heterozygosity was found for one of the most common β-globin gene mutations in the Spanish population (codon 39 C→T) and for a mutation in the TATA box element of the β-globin gene promoter (−28 A→C mutation). To our knowledge th...

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Bibliographic Details
Main Authors: Soledad Gamarra, Guillermo Garcia-Effron, Carmen Monteserin, Isabel Lopez-Villar, Florinda Gilsanz, Joaquín Martinez-Lopez
Format: Article
Language:English
Published: Hindawi Limited 2009-01-01
Series:Advances in Hematology
Online Access:http://dx.doi.org/10.1155/2009/476342