title: Familial sideroblastic anemia with emergence of monosomy 5 and myelodysplastic syndrome.
abstract: The case history of two sisters with pyridoxine-refractory familial sideroblastic anemia (FSA) is presented in which one developed a myelodysplastic syndrome (MDS) with monosomy for chromosome 5. Bone marrow examination of both patients at diagnosis showed erythroid hyperplasia with more than 50% ring sideroblasts. Karyotypic analysis initially showed a normal 46, XX karyotype in both of the children. Therapeutic trials with pyridoxine, prednisone, and erythropoietin were unsuccessful. The first patient required regular transfusions and developed a significant hemosiderosis. At the age of 9 years, 7.5 years after the diagnosis of FSA, refractory anemia with excess of blasts (RAEB) was diagnosed. Bone marrow cytogenetic analysis revealed a clone with monosomy for chromosome 5. Her sister's illness was detected at the age of 12 years. She has a more benign course of disease, remains largely transfusion independent and until now shows no signs of myelodysplasia. To our knowledge this is the first observation of a transition of FSA to MDS accompanied by the appearance of a chromosomal abnormality. FSA might be another type of bone marrow failure syndrome, therefore close follow-up of these patients may be necessary.
mesh_terms: D000754:Anemia, Refractory, with Excess of Blasts / Q000150:complications; D000756:Anemia, Sideroblastic / Q000150:complications* / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000188:drug therapy / Q000235:genetics*; D011736:Pyridoxine / Q000627:therapeutic use
chemical_list: D011736:Pyridoxine