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. 1968 Dec 21;4(5633):748–750. doi: 10.1136/bmj.4.5633.748

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

H Lehmann, R W Carrell
PMCID: PMC1912890  PMID: 5723728

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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