Hb CAPA OR α₂ 94(G1)ASP→GLYβ₂, A Mildly Unstable Variant with an A↠G (Gac↠Ggc) Mutation in Cown 94 of the α1-Globin Gene

G. Dinçol Hematology Clinic, University o f Istanbul Istanbul, Turkey

K. Dinçol Hematology Clinic, University o f Istanbul Istanbul, Turkey

S. Erdem Hematology Clinic, University o f Istanbul Istanbul, Turkey

D. D. Pobedimskaya Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College o f Georgia, Augusta, GA, 30912-2100, USA

T. P. Molchanova Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College o f Georgia, Augusta, GA, 30912-2100, USA

Z. Ye Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College o f Georgia, Augusta, GA, 30912-2100, USA

B. B. Webber Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College o f Georgia, Augusta, GA, 30912-2100, USA

J. B. Wilson Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College o f Georgia, Augusta, GA, 30912-2100, USA

T. H. J. Huisman Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College o f Georgia, Augusta, GA, 30912-2100, USA

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Abstract

A 28-year-old female from the city of Kars in Turkey was treated for a chronic iron deficiency anemia with oral iron. During the clinical evaluation a slowly moving hemoglobin (Hb) variant was detected which migrated about like Hb F in alkaline electrophoresis and like Hb S in agar electrophoresis at pH 6.2. The variant appeared mildly unstable in a heat denaturation test (60°C) but the isopropanol stability test was questionably positive (for methodology, see Ref. 1).

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Hb CAPA OR α₂ 94(G1)ASP→GLYβ₂, A Mildly Unstable Variant with an A↠G (Gac↠Ggc) Mutation in Cown 94 of the α1-Globin Gene

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Hb CAPA OR α2 94(G1)ASP→GLYβ2, A Mildly Unstable Variant with an A↠G (Gac↠Ggc) Mutation in Cown 94 of the α1-Globin Gene

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Hb CAPA OR α₂ 94(G1)ASP→GLYβ₂, A Mildly Unstable Variant with an A↠G (Gac↠Ggc) Mutation in Cown 94 of the α1-Globin Gene