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
Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, Spain.
Hemoglobin. 2012;36(6):526-32. doi: 10.3109/03630269.2012.733988. Epub 2012 Oct 24.
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 three families. Selective sequencing of the α2 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 α and the β chain. Some of these are as unstable as Hb Agrinio and their presence is difficult to detect except by DNA sequencing.
