A Case of an Atypical Form of Blackfan-Diamond Anemia (BDA)
Journal Title: Saudi Journal of Medical and Pharmaceutical Sciences - Year 2017, Vol 3, Issue 11
Abstract
Abstract:Blackfan-Diamond Anemia (BDA) is the only recognized form of congenital erythroblastopenia, its mechanisms of occurrence are still obscure. The unexpected discovery of a ribosomal protein "ribosomal protein S19 (rps19)" has made this pathology a star of ribosomopathies. This mutation is only found in 25% of patients. It presents a great clinical variability (typical and atypical form), but especially poses a real problem related to the complications and the therapeutic accessibility of which the allograft of the marrow remains the only curative means. We report an atypical case of BDA revealed by an anemic syndrome in an infant at the Hassan II University Hospital Center of Fez, Morocco. Keywords:Blackfan-Diamond Anemia, CHU Hassan II Fez, Morocco
Authors and Affiliations
Djibrilla A, Jamai I, B. Malam-Abdou, Talmcani I, Marou S. B, Amrani M
Keywords
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