Familial sideroblastic anemia with emergence of monosomy 5 and myelodysplastic syndrome

✍ Scribed by Kardos, G.; Veerman, A.J.P.; de Waal, F.C.; van Oudheusden, L.J.; Slater, R.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 356 KB
• Volume: 26
• Category: Article
• ISSN: 0098-1532
• DOI: 10.1002/(sici)1096-911x(199601)26:1<54::aid-mpo7>3.0.co;2-u

✦ Synopsis

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 diagno-sis 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.