Abstract
Assays of erythropoietin (EPO) dependent stem cells, CFU-E and BFU-E, using plasma clot or methyl cellulose tissue culture systems, allow study of early erythropoietic events. Marrows from 9 patients with steroid-responsive Dlamond-Blackfan syndrome (DBS) yielded a mean of 17 CFU-E/105 cells (range 3-34) when untreated and 75 CFU-E/105 (range 19-195) when on prednisone (control mean 158/105. range 31-317). Hydrocortisone in vitro (.01-1.0 μg/ml) failed to increase CFU-E from patients' or control marrows. Marrow from 3 untreated patients separated on an albumin density gradient (increments from 17-31%) yielded fractions with enormous numbers of colonies (up to 1400 CFU-E/105, and 2120 BFU-E/105), similar to controls. Cellular inhibition of erythropoiesis was explored by recombination of albumin separated marrow fractions, co-culture of DBS peripheral blood lymphs with autologous and control marrow, and co-culture of DBS and control marrows. No decrease of CFU-E was seen in any experiment. We conclude in DBS: normal numbers of stem cells can be demonstrated and they respond normally to EPO; the clinical response to steroids cannot be duplicated in vitro; cellular inhibition of erythropoiesis cannot be shown in steroid-responsive patients.
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Freedman, M., Saunders, E. DIAMOND-BLACKFAN SYNDROME; IN VITRO ANALYSIS OF THE ERYTHROPOIETIC DEFECT. Pediatr Res 11, 471 (1977). https://doi.org/10.1203/00006450-197704000-00608
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DOI: https://doi.org/10.1203/00006450-197704000-00608