HB Wayne, the Frameshift Variant with Extended α Chains Observed in a Caucasian Family from Alabama

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

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

S. E. N. Johnson Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell and 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 and Molecular Biology, Medical College of Georgia Augusta, GA, 30912, USA

Abstract

The presence of the α-globin frameshift mutant, Hb Wayne, in three generations of a second family is described. The data include a hematological evaluation of the four heterozygotes, structural characterization of the variant, the use of HPLC for the separation of tryptic and chymotryptic peptides, functional analyses of the isolated variant showing high affinity for oxygen and the (near) absence of a Bohr effect, and α chain gene organization analyses with restriction endonuclease technology suggesting that the Hb Wayne heterozygote has a full complement of four α globin genes.

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HB Wayne, the Frameshift Variant with Extended α Chains Observed in a Caucasian Family from Alabama

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HB Wayne, the Frameshift Variant with Extended α Chains Observed in a Caucasian Family from Alabama

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