Papers And Originals

Differences between α- and β-Chain Mutants of Human Haemoglobin and between α- and β-Thalassaemia. Possible Duplication of the α-Chain Gene

Br Med J 1968; 4 doi: https://doi.org/10.1136/bmj.4.5633.748 (Published 21 December 1968) Cite this as: Br Med J 1968;4:748
  1. H. Lehmann,
  2. R. W. Carrell

    Abstract

    Human adult haemoglobin consists of two unlike pairs of polypeptide chains, and can be described as α2β2. Amino-acid substitutions in either of the two types of chain result in α- and β-chain variants. In thalassaemia, which causes a lowered production of haemoglobin, the α or the β chain can be affected, the result being α- or β-thalassaemia. There is a quantitative difference in the proportion of α- and β-chain variants to normal haemoglobin in the respective heterozygotes, and there is also a difference in the pattern of inheritance of α- and β-thalassaemia: these could possibly be explained by assuming that man has one gene for the β- and two for the α-chain.

    Footnotes

    • * From the Medical Research Council Abnormal Haemoglobin Research Unit, University Department of Biochemistry, Cambridge.