Diamond Blackfan Anemia: a Tertiary Care Center Experience
نویسندگان
چکیده
Diamond Blackfan Anemia (DBA) is a rare hypoplastic anemia that presents in infancy with macrocytic anemia and reticulocytopenia. It is a ribosomopathy with autosomal dominant inheritance. In our series of 10 patients with DBA, congenital malformations were observed in 50% of the cases. Age at symptom onset ranged from 0-12 months. Age at diagnosis ranged from 4 months to 96 months. Male: female ratio was 9:1. Response to prednisolone was observed in 4 out of the 10 patients (either during initial treatment or during re-challenge). Response to cyclosporine was found to be poor. Bone marrow transplantation was successful in attaining remission in one patient. Malignancies were not reported in any patient possibly due to a short follow up period.
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1Steven and Alexandra Cohen Children’s Medical Center of New York, Hematology/Oncology and Stem Cell Transplantation, New Hyde Park, NY; 2The Feinstein Institute for Medical Research, Manhasset, NY; 3Hofstra North Shore–Long Island Jewish School of Medicine, Hempstead, NY; and 4Biostatistics Branch and 5Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Inst...
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