title: α-Thalassemia, mental retardation, and myelodysplastic syndrome.
abstract: This article describes three rare syndromes in which the presence of α-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. Two of the syndromes, ATR-16 and ATR-X, are characterized by α-thalassemia in association with multiple developmental abnormalities including mental retardation. The third condition, ATMDS, is an acquired disorder in which α-thalassemia arises in the context of myelodysplasia. Intriguingly, mutations in the chromatin remodeling factor, ATRX, are common to both ATR-X syndrome and ATMDS.
authors.affiliation: MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom. richard.gibbons@ndcls.ox.ac.uk
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Gibbons
mesh_terms: D042002:Chromatin Assembly and Disassembly; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics*; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics*