Abnormal hemoglobins in a quarter million people

作者: RG Schneider , B Hightower , TS Hosty , H Ryder , G Tomlin

DOI: 10.1182/BLOOD.V48.5.629.629

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摘要: Hemolysates of erythrocytes from more than a quarter million people in Alabama were electrophoresed on cellulose acetate, pH 8.4, and those samples exhibiting an abnormality also citrate agar, 6.0. The globin chains mutants other Hb S C urea-mercaptoethanol buffers at both 8.9 6.0, 60 them analyzed structurally. Of about 6000 whites, only three contained abnormal hemoglobins--Hb D Los Angeles, J Baltimore, one unidentified. 249,000 blacks, 29,000 electrophoretically detectable abnormalities, most associated with or C, present frequency 9% 3%, respectively. About 1000 resolved into patterns potential clinical significance. Twenty mutant hemoglobins detected, various genetic combinations 164 kindreds; four these-Hb Alabama, Montgomery, Titusville, Mobile-- previously unknown. methods used are rapid, economical, well suited for large scale surveys. They provide highly specific characterizations many hemoglobins, no discrepancies found between the presumptive identifications based these definitive obtained structural analyses.

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