title: The alpha-chain-termination mutants and their relation to the alpha-thalassaemias.
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.
mesh_terms: D000596:Amino Acids / Q000032:analysis; D003062:Codon; D005838:Genotype; D006115:Greece; D006447:Hemoglobin H / Q000096:biosynthesis; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000096:biosynthesis*; D006579:Heterozygote; D006801:Humans; D007563:Jamaica; D008954:Models, Biological; D009154:Mutation; D010375:Pedigree; D010446:Peptide Fragments; D012156:Reticulocytes / Q000378:metabolism; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
chemical_list: D000596:Amino Acids; D003062:Codon; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; D006447:Hemoglobin H