Open AccessDiamond–Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature
Author(s) -
Dilshad Jahan,
Maruf Al Hasan,
Mainul Haque
Publication year - 2020
Publication title -
journal of pharmacy and bioallied sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.268
H-Index - 36
eISSN - 0976-4879
pISSN - 0975-7406
DOI - 10.4103/jpbs.jpbs_234_19
Subject(s) - diamond–blackfan anemia , pallor , medicine , pediatrics , anemia , bone marrow failure , pancytopenia , gene mutation , fanconi anemia , bone marrow , hematopoietic stem cell transplantation , mutation , transplantation , stem cell , haematopoiesis , genetics , gene , ribosome , rna , dna repair , biology
Diamond-Blackfan anemia (DBA), one of a rare group of inherited bone marrow failure syndromes, is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. It can be caused by mutations in the RPS19 gene (25% of the cases).