Hb Wayne, the frameshift variant with extended alpha chains observed in a Caucasian family from Alabama

The presence of the alpha-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 peptid...

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Bibliographic Details
Published inHemoglobin Vol. 8; no. 1; p. 1
Main Authors Huisman, T H, Headlee, M G, Wilson, J B, Lam, H, Johnson, S E, Webber, B B
Format Journal Article
LanguageEnglish
Published England 1984
Subjects
Adult
Child, Preschool
DNA - genetics
DNA Restriction Enzymes
Female
Genes
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - genetics
Heterozygote
Humans
Infant, Newborn
Male
Middle Aged
Mutation
Oxyhemoglobins - metabolism
Pedigree
Peptides - analysis
Protein Conformation
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Summary:The presence of the alpha-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 alpha chain gene organization analyses with restriction endonuclease technology suggesting that the Hb Wayne heterozygote has a full complement of four alpha globin genes.
ISSN:0363-0269
DOI:10.3109/03630268408996956