β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C→T−28 A→C
Joint Authors
Lopez-Villar, Isabel
Garcia-Effron, Guillermo
Martinez-Lopez, Joaquín
Gilsanz, Florinda
Monteserin, Carmen
Gamarra, Soledad
Source
Issue
Vol. 2009, Issue 2009 (31 Dec. 2009), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2009-07-28
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Gamarra, Soledad& Garcia-Effron, Guillermo& Monteserin, Carmen& Lopez-Villar, Isabel& Gilsanz, Florinda& Martinez-Lopez, Joaquín. 2009. β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C→T−28 A→C. Advances in Hematology،Vol. 2009, no. 2009, pp.1-3.
https://search.emarefa.net/detail/BIM-474614
Modern Language Association (MLA)
Gamarra, Soledad…[et al.]. β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C→T−28 A→C. Advances in Hematology No. 2009 (2009), pp.1-3.
https://search.emarefa.net/detail/BIM-474614
American Medical Association (AMA)
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. Advances in Hematology. 2009. Vol. 2009, no. 2009, pp.1-3.
https://search.emarefa.net/detail/BIM-474614
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-474614