title: The molecular basis of α-thalassemia: a model for understanding human molecular genetics.
abstract: Down-regulation of α-globin synthesis causes α-thalassemia with underproduction of fetal (HbF, α(2)γ(2)) and adult (HbA, α(2)β(2)) hemoglobin. This article focuses on the human α-globin cluster, which has been characterized in great depth over the past 30 years. In particular the authors describe how the α genes are normally switched on during erythropoiesis and switched off as hematopoietic stem cells commit to nonerythroid lineages. In addition, the principles by which α-globin expression may be perturbed by natural mutations that cause α-thalassemia are reviewed.
authors.affiliation: John Radcliffe Hospital, MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Headington, Oxford, UK. doug.higgs@imm.ox.ac.uk
authors.forename: Douglas R
authors.initials: DR
authors.lastname: Higgs
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Gibbons
mesh_terms: D004920:Erythropoiesis / Q000235:genetics; D005319:Fetal Hemoglobin / Q000235:genetics*; D006441:Hemoglobin A / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D005810:Multigene Family; D009154:Mutation; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin