Article
Study of three families with Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] in the Spanish population: three homozygous cases.
Hemoglobin - 1 Jan 2012
de la Fuente-Gonzalo Felix, Baiget Montserrat, Badell Isabel, Ricard Pilar, Vinuesa Lara, Martínez-Nieto Jorge, Ropero Paloma, Villegas Ana, González Fernando A, Díaz-Mediavilla Joaquin, Erythropathology Spanish Group
Abstract excerpt
Most α-thalassemia (α-thal) mechanisms are deletions of one or both α-globin genes and less than 5.0-10.0% are point mutations. Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] is a hyperunstable α 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...
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