title: Hb Wayne, the frameshift variant with extended alpha chains observed in a Caucasian family from Alabama.
abstract: 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.
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005260:Female; D005796:Genes; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010108:Oxyhemoglobins / Q000378:metabolism; D010375:Pedigree; D010455:Peptides / Q000032:analysis; D011487:Protein Conformation
chemical_list: D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; D010455:Peptides; C041280:hemoglobin Wayne; D004247:DNA; D004262:DNA Restriction Enzymes