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 knowledg...

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Detalles Bibliográficos
Autores principales: Gamarra, Soledad, Garcia-Effron, Guillermo, Monteserin, Carmen, Lopez-Villar, Isabel, Gilsanz, Florinda, Martinez-Lopez, Joaquín
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778560/
https://www.ncbi.nlm.nih.gov/pubmed/19960060
http://dx.doi.org/10.1155/2009/476342
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author Gamarra, Soledad
Garcia-Effron, Guillermo
Monteserin, Carmen
Lopez-Villar, Isabel
Gilsanz, Florinda
Martinez-Lopez, Joaquín
author_facet Gamarra, Soledad
Garcia-Effron, Guillermo
Monteserin, Carmen
Lopez-Villar, Isabel
Gilsanz, Florinda
Martinez-Lopez, Joaquín
author_sort Gamarra, Soledad
collection PubMed
description 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 this is the first report of a CD39 C → T and −28 A → C change association and the first report of the −28 A → C substitution in a Spanish patient.
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spelling pubmed-27785602009-12-03 β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/−28 A → C Gamarra, Soledad Garcia-Effron, Guillermo Monteserin, Carmen Lopez-Villar, Isabel Gilsanz, Florinda Martinez-Lopez, Joaquín Adv Hematol Case Report 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 this is the first report of a CD39 C → T and −28 A → C change association and the first report of the −28 A → C substitution in a Spanish patient. Hindawi Publishing Corporation 2009 2009-07-28 /pmc/articles/PMC2778560/ /pubmed/19960060 http://dx.doi.org/10.1155/2009/476342 Text en Copyright © 2009 Soledad Gamarra et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gamarra, Soledad
Garcia-Effron, Guillermo
Monteserin, Carmen
Lopez-Villar, Isabel
Gilsanz, Florinda
Martinez-Lopez, Joaquín
β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/−28 A → C
title β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/−28 A → C
title_full β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/−28 A → C
title_fullStr β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/−28 A → C
title_full_unstemmed β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/−28 A → C
title_short β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/−28 A → C
title_sort β-thalassaemia major in a spanish patient due to a compound heterozygosity for cd39 c → t/−28 a → c
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778560/
https://www.ncbi.nlm.nih.gov/pubmed/19960060
http://dx.doi.org/10.1155/2009/476342
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