HB Bibba OR α₂136(H19)LEU→PROβ₂ in a Caucasian Family from Alabama

J. T. Prchal Division of Hematology/Oncology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 35294, USA

B. Adler Division of Hematology/Oncology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 35294, USA

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

E. Baysal Laboratory of Protein Chemistry and Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

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

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

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

E. G. Kazanetz Laboratory of Protein Chemistry and Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

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

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Abstract

Several members of a large Caucasian family who presented with a congenital Heinz body hemolytic anemia were found to be carriers of the unstable Hb Bibba or α₂136(H19)Leu→Proβ2. Identification by protein analysis was hampered by the instability of the variant which complicated its isolation from shipped blood samples. Moreover, the detection of the CTG→CCG mutation at codon 136 of the α2 gene required the substitution of dGTP by dITP during the DN A sequencing process to prevent the occurrence of secondary structures and compressions in the sequencing gel. The first Hb Bibba heterozygote, characterized in 1968 (1), is believed to be a member of this family. The clinical expression of the disease is surprisingly variable.

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HB Bibba OR α₂136(H19)LEU→PROβ₂ in a Caucasian Family from Alabama

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HB Bibba OR α2136(H19)LEU→PROβ2 in a Caucasian Family from Alabama

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HB Bibba OR α₂136(H19)LEU→PROβ₂ in a Caucasian Family from Alabama