STUDY OF THREE FAMILIES WITH Hb AGRINIO [alpha 29(B10)Leu -> Pro, CTG > CCG (alpha 2)] IN THE SPANISH POPULATION: THREE HOMOZYGOUS CASES
| Autor: | de la Fuente-Gonzalo, F, Baiget, M, Badell, I, Ricard, P, Vinuesa, L, Martinez-Nieto, J, Ropero, P, Villegas, A, Gonzalez, FA, Diaz-Mediavilla, J |
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| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | HEMOGLOBIN r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname |
| ISSN: | 0363-0269 |
| Popis: | Most alpha-thalassemia (alpha-thal) mechanisms are deletions of one or both alpha-globin genes and less than 5.0-10.0% are point mutations. Hb Agrinio [alpha 29(B10)Leu -> Pro, CTG>CCG (alpha 2)] is a hyperunstable a chain structural variant in which the thalassemic phenotype is determined by a post translational precipitation of the structurally anomalous chain in erythroid precursors. This study involved 14 cases with Hb Agrinio from three families. Selective sequencing of the alpha 2 gene showed a CTG(Leu)>CCG(Pro) mutation at codon 29. The mutation was found in a heterozygous state in 11 cases and in a homozygous state in three cases. These are the first cases with Hb Agrinio described in Spain. In all cases where a leucine is exchanged for a proline, an unstable hemoglobin (Hb) will occur both in the alpha and the beta chain. Some of these are as unstable as Hb Agrinio and their presence is difficult to detect except by DNA sequencing. |
| Databáze: | OpenAIRE |
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