title: A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome.
abstract: Acquired α-thalassemia (α-thal) myelodysplastic syndrome (ATMDS) is a rare acquired syndrome characterized by a somatic point mutation in the ATRX gene in patients with chronic myeloid disorders. We describe the case of a 78-year-old man with myelodysplastic syndrome (MDS) and striking microcytic, hypochromic anemia. Brilliant cresyl blue supravital stain of the peripheral blood and hemoglobin (Hb) electrophoresis showed the presence of Hb H. Sequence analysis of unfractionated peripheral blood DNA identified a G>T transition at codon 524 in exon 7 of the ATRX gene. To the best of our knowledge, it is the first description of this point mutation of the ATRX gene in an ATMDS.
authors.affiliation: Service d'Onco-Hématologie, Hôpital Saint Vincent de Paul, Université Catholique de Lille, Université Nord de France, Lille, France.
authors.forename: Charles
authors.initials: C
authors.lastname: Herbaux
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Guidez
authors.forename: Caroline
authors.initials: C
authors.lastname: Lacoste
authors.forename: Patrice
authors.initials: P
authors.lastname: Maboudou
authors.forename: Christian
authors.initials: C
authors.lastname: Rose
mesh_terms: D000368:Aged; D001483:Base Sequence; D004265:DNA Helicases / Q000235:genetics*; D005091:Exons; D006801:Humans; D008297:Male; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009687:Nuclear Proteins / Q000235:genetics*; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein