Hb A₂-Manzanares Or α₂δ₂ 121(Gh4) Glu→Val, An Unstable δ Chain Variant Observed in a Spanish Family

C. Romero Garcia Servicio de Hematologia-Hemoterapia Centro Especial “Ramon y Cajal” de la Seguridad Social Apartado, 37, Madrid-34, Espana

J. L. Navarro Servicio de Hematologia-Hemoterapia Centro Especial “Ramon y Cajal” de la Seguridad Social Apartado, 37, Madrid-34, Espana

H. Lam Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell, Molecular Biology Medical College of Georgia, Augusta, GA, 30912, USA

B. B. Webber Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell, Molecular Biology Medical College of Georgia, Augusta, GA, 30912, USA

M. G. Headlee Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell, Molecular Biology Medical College of Georgia, Augusta, GA, 30912, USA

J. B. Wilson Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell, Molecular Biology Medical College of Georgia, Augusta, GA, 30912, USA

T. H. J. Huisman Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell, Molecular Biology Medical College of Georgia, Augusta, GA, 30912, USA

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Abstract

A slowly moving variant of Hb A₂ was present in a 25-year-old Spanish woman and her mother, and was found to have a Glu→Val substitution at position 121 of the δ chain. The variant was unstable and precipitated gradually during anion exchange chromatography. The effect of this substitution on the stability of the protein is apparently more severe for Hb A₂ than for Hb A because Hb Beograd (β121 Glu→Val) has normal physicochemical properties.

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Hb A₂-Manzanares Or α₂δ₂ 121(Gh4) Glu→Val, An Unstable δ Chain Variant Observed in a Spanish Family

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Hb A2-Manzanares Or α2δ2 121(Gh4) Glu→Val, An Unstable δ Chain Variant Observed in a Spanish Family

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Hb A₂-Manzanares Or α₂δ₂ 121(Gh4) Glu→Val, An Unstable δ Chain Variant Observed in a Spanish Family