title: The molecular basis of β-thalassemia.
abstract: The β-thalassemias are characterized by a quantitative deficiency of β-globin chains underlaid by a striking heterogeneity of molecular defects. Although most of the molecular lesions involve the structural β gene directly, some down-regulate the gene through distal cis effects, and rare trans-acting mutations have also been identified. Most β-thalassemias are inherited in a Mendelian recessive fashion but there is a subgroup of β-thalassemia alleles that behave as dominant negatives. Unraveling the molecular basis of β-thalassemia has provided a paradigm for understanding of much of human genetics.
authors: Department of Haematological Medicine, King's College London School of Medicine/King's College Hospital NHS Foundation Trust, London SE5 9NU, United Kingdom. sl.thein@kcl.ac.uk
authors: Swee Lay
authors: SL
authors: Thein
mesh_terms: D018387:Codon, Initiator / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D017353:Gene Deletion; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012313:RNA / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics; D055544:beta-Globins / Q000172:deficiency / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D018388:Codon, Terminator; D055544:beta-Globins; D012313:RNA
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