The α-chain-termination mutants and their relation to the α-thalassaemias

Publisher Website
Google Scholar
Abstract
The structure, synthesis, genetic transmission, clinical associations and distribution of the elongated $\alpha$-chain haemoglobin variants has been described. The data indicate that the most likely molecular basis for these common abnormal haemoglobins is a single base substitution in the $\alpha$-chain termination codon. Because these variants are produced inefficiently they give rise to the clinical picture of $\alpha$-thalassaemia. When these findings are taken together with recent work regarding the molecular basis for other forms of $\alpha$-thalassaemia it is possible to build up a fairly complete picture of the molecular pathology of the $\alpha$-thalassaemias.
Keywords