Percentages of abnormal hemoglobins in adults with a heterozygosity for an alpha-chain and/or a beta-chain variant.
The author reviews quantitative data from blood samples involving more than 700 simple and compound heterozygotes for one of 21 types of alpha-chain and 36 types of beta-chain variants. All samples were analyzed during the past few years by the same analytical procedure. Various factors influencing the percentages of the different abnormal hemoglobins are discussed; these include the variability of the method, the number of active alpha-chain genes, the location of the substitution, the type of substitution, the effect of the loss of a critical amino acid residue, and the introduction of a new residue on the physiochemical and/or functional properties of the protein. The use of a single accurate method is promoted; it may well be that high-pressure liquid chromatographic procedures will be the recommended methods for future analyses.
D002848:Chromatography, DEAE-Cellulose; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans
D006455:Hemoglobins, Abnormal