1. First Spanish Case Of Thalassemia Major Due to a Compound Heterozygosity for the IVS-II-848 (C→A) And Codon 39 (C→T) Mutations Of The β-Globin Gene.
- Author
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Ropero, Paloma, Villegas, Ana, Muñoz, Juan, Briceño, Olga, Mora, Asunción, Salvador, María, Polo, Marta, and González, Fernando A.
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THALASSEMIA , *GENETIC mutation , *NUCLEOTIDES , *HEMOGLOBINS , *PLASMA exchange (Therapeutics) - Abstract
This report describes the first case in Spain of a severe form of ß-thalassemia (thal) due to a compound heterozygosity for the IVS-II-848 (C?A) and the nonsense codon 39 (C?T) mutations. Five members of a family from Cadiz (southern Spain) were studied. The proband was an 8-year-old girl diagnosed as anemic at the age of 13 months. Her father had the codon 39 (C?T) mutation and her mother the C?A change at nucleotide (nt) 848 of IVS-II. Haplotype analysis showed that the proband was a compound heterozygote for haplotypes I [+ - - - - + +] and VII [+ - - - - - +]. This is the first description in Spain of the IVS-II-848 (C?A) mutation. It appears, from restriction fragment length polymorphism (RFLP) analysis, that this mutation has a different origin in the various populations, where it was found. This observation shows that in this case the association of a ß 0 - and a ß + -thal mutation does not lead to a thalassemia intermedia but to a severe thalassemia with very low hemoglobin (Hb) levels. From a therapeutic point of view, early introduction of a transfusion regimen may improve the clinical picture of these children, allowing for better development and growth. [ABSTRACT FROM AUTHOR]
- Published
- 2006
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