Differences between α- and β-Chain Mutants of Human Haemoglobin and between α- and β-Thalassaemia. Possible Duplication of the α-Chain Gene. Issue 5633 (21st December 1968)

• Record Type: Journal Article
• Authors: Lehmann, H.; Carrell, R. W.
• Is Part Of: BMJ. Volume 4:Issue 5633(1968)
• Page Start: 748
• Page End: 750
• Publication Date: 1968-12-21
• Subjects: Medicine -- Periodicals; Medicine -- Periodicals; Medicine; Periodicals; 610
• DOI: 10.1136/bmj.4.5633.748
• Languages: English
• ISSNs: 0007-1447

Abstract

Abstract : Human adult haemoglobin consists of two unlike pairs of polypeptide chains, and can be described as α2 β2 . 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.