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<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>

Original publication




Journal article


Philosophical Transactions of the Royal Society of London. B, Biological Sciences


The Royal Society

Publication Date





411 - 455