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Percentages of abnormal hemoglobins in adults with a heterozygosity for an α‐chain and/or a β‐chain variant
Author(s) -
Huisman Titus H. J.
Publication year - 1983
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830140411
Subject(s) - loss of heterozygosity , residue (chemistry) , chain (unit) , heterozygote advantage , branched chain amino acid , substitution (logic) , amino acid residue , polypeptide chain , biology , genetics , computational biology , gene , amino acid , biochemistry , peptide sequence , computer science , allele , astronomy , programming language , physics , leucine
The author reviews quantitative data from blood samples involving more than 700 simple and compound heterozygotes for one of 21 types of α‐chain and 36 types of β‐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 α‐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 physicochemical 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.