The α-chain-termination mutants and their relation to the α-thalassaemias
<jats:p>The structure, synthesis, genetic transmission, clinical associations and distribution of the elongated α-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 α-chain termination codon. Because these variants are produced inefficiently they give rise to the clinical picture of α-thalassaemia. When these findings are taken together with recent work regarding the molecular basis for other forms of a-thalassaemia it is possible to build up a fairly complete picture of the molecular pathology of the α-thalassaemias.</jats:p>