A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2) |
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Authors: | Martin Guillermo Villegas Ana González Fernando Ataulfo Ropero Paloma Hojas Ricardo Polo Marta Mateo Marta Salvador Maria Benavente Celina |
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Institution: | Servicio de Hematología y Hemoterapia del Hospital Virgen del Puerto, Plasencia, Spain. |
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Abstract: | We describe, in a Spanish family with moderate microcytosis and hypochromia, a novel nondeletional alpha-thalassemia (thal) mutation localized on the alpha2-globin gene. DNA sequencing revealed a point mutation at codon 125 (CTG --> CGG) in the heterozygous state, that was confirmed by restriction analysis. The resulting variant, which causes a nondeletional alpha-thal, was named Hb Plasencia alpha125(H8)Leu --> Arg (alpha2)] after the place of residence of the affected family. |
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