Diamond-Blackfan Syndrome. I. Erythropoiesis in Prednisone Responsive and Resistant Disease
نویسندگان
چکیده
منابع مشابه
Diamond-Blackfan anemia: erythropoiesis lost in translation.
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least 4 genes are associated with DBA of which 2 have been identified so far. The known DBA genes encode the ribosomal proteins S19 and S24 accounting for 25% and 2% of the patients, respectively. Herein, we review possible links between ri...
متن کاملDiamond-Blackfan syndrome and neutropenia.
Neutropenia is a rare complication of Diamond-Blackfan syndrome (congenital hypoplastic anaemia). Three patients are reported: all had neutropenia as well as anaemia, and to investigate the cause of the neutropenia culture of bone marrow for granulocyte-macrophage colony forming cells (GMCFCs) was performed. Two cases had a low incidence of GMCFCs, but the third case had a high incidence. These...
متن کاملDiamond-Blackfan anemia: a congenital defect in erythropoiesis.
Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia diagnosed in the first year of life. Familiarity is apparent in 10% of patients, with all other cases being sporadic. Physical abnormalities are present in at least one third of patients, pointing to a defect in early embryo development. The main clinical sign is profound isolated anemia, with normal numbers and functioni...
متن کاملDiamond-Blackfan Anemia: Promotion of Marrow Erythropoiesis In Vitro
To clarify the defective erythropoiesis in eight patients with Diamond-Blackfan anemia. we studied their bone marrow response in vitro to recombinant human interleukin-3 (11-3) and recombinant granulocyte-macrophage colony-stimulating factor (GM-CSF). In an erythropoietincontaining assay system. specimens from six of the eight patients yielded low numbers of erythroid colonies compared to contr...
متن کاملRED CELLS, IRON, AND ERYTHROPOIESIS Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Research
سال: 1982
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198206000-00014