Diamond–Blackfan anemia RPL35A: a case report
| dc.contributor.author | Noel, Colin B | |
| dc.date.accessioned | 2019-08-20T12:38:08Z | |
| dc.date.available | 2019-08-20T12:38:08Z | |
| dc.date.issued | 2019-06-18 | |
| dc.date.updated | 2019-06-23T03:40:07Z | |
| dc.description.abstract | Background Diamond–Blackfan anemia is a rare congenital red blood cell aplasia characterized by failed erythropoiesis, congenital abnormalities in up to 50% of patients, growth retardation in up to 30% of patients, and a predisposition to malignancy. Diamond–Blackfan anemia is both clinically and genetically a heterogenous condition ranging from subtle asymptomatic erythroid abnormalities to non-immune hydrops fetalis. Current treatment options include corticosteroid therapy, chronic red blood cell transfusions, and hematopoietic stem cell transplantation with gene therapy receiving recent attention. We report the first documented case of Diamond–Blackfan anemia in a Caucasian girl secondary to a sporadic heterozygous whole gene deletion in RPL35A in South Africa. Limited resources, non-availability of tests, unfamiliarity that comes with rare diseases, an expanded differential diagnosis, and an associated neutropenia led to a delay in the diagnosis of Diamond–Blackfan anemia. This case reminds clinicians of Diamond–Blackfan anemia as a cause of aplastic anemia and highlights the difficulty and obstacles in diagnosing Diamond–Blackfan anemia in resource-limited countries. Case presentation We report a case of a 6-week-old Caucasian girl presenting with urosepsis and heart failure secondary to a severe anemia and neutropenia. Limited experience and resources resulted in a delay in diagnosis. Genetic studies later confirmed a heterozygous whole gene deletion of RPL35A. Initial treatment was directed toward correcting the anemia with red blood cell transfusion every 3 to 5 weeks. Conclusion Diamond–Blackfan anemia is a rare disease that carries significant morbidity and mortality if not diagnosed early and managed appropriately. Limited health resources, patient registries, and specialists as seen in developing countries result in a paucity of knowledge about Diamond–Blackfan anemia in Africa. This case reminds clinicians about Diamond–Blackfan anemia as a cause for anemia in infants, the limitations in making the diagnosis in under-resourced health care systems, and the need for standardized treatment protocols applicable to resource-limited countries. | |
| dc.identifier.apacitation | Noel, C. B. (2019). Diamond–Blackfan anemia RPL35A: a case report. <i>Journal of Medical Case Reports</i>, http://hdl.handle.net/11427/30492 | en_ZA |
| dc.identifier.chicagocitation | Noel, Colin B "Diamond–Blackfan anemia RPL35A: a case report." <i>Journal of Medical Case Reports</i> (2019) http://hdl.handle.net/11427/30492 | en_ZA |
| dc.identifier.citation | Noel, C. B. 2019. Diamond–Blackfan anemia RPL35A: a case report. Journal of medical case reports, 13(1): 185. | |
| dc.identifier.ris | TY - AU - Noel, Colin B AB - Background Diamond–Blackfan anemia is a rare congenital red blood cell aplasia characterized by failed erythropoiesis, congenital abnormalities in up to 50% of patients, growth retardation in up to 30% of patients, and a predisposition to malignancy. Diamond–Blackfan anemia is both clinically and genetically a heterogenous condition ranging from subtle asymptomatic erythroid abnormalities to non-immune hydrops fetalis. Current treatment options include corticosteroid therapy, chronic red blood cell transfusions, and hematopoietic stem cell transplantation with gene therapy receiving recent attention. We report the first documented case of Diamond–Blackfan anemia in a Caucasian girl secondary to a sporadic heterozygous whole gene deletion in RPL35A in South Africa. Limited resources, non-availability of tests, unfamiliarity that comes with rare diseases, an expanded differential diagnosis, and an associated neutropenia led to a delay in the diagnosis of Diamond–Blackfan anemia. This case reminds clinicians of Diamond–Blackfan anemia as a cause of aplastic anemia and highlights the difficulty and obstacles in diagnosing Diamond–Blackfan anemia in resource-limited countries. Case presentation We report a case of a 6-week-old Caucasian girl presenting with urosepsis and heart failure secondary to a severe anemia and neutropenia. Limited experience and resources resulted in a delay in diagnosis. Genetic studies later confirmed a heterozygous whole gene deletion of RPL35A. Initial treatment was directed toward correcting the anemia with red blood cell transfusion every 3 to 5 weeks. Conclusion Diamond–Blackfan anemia is a rare disease that carries significant morbidity and mortality if not diagnosed early and managed appropriately. Limited health resources, patient registries, and specialists as seen in developing countries result in a paucity of knowledge about Diamond–Blackfan anemia in Africa. This case reminds clinicians about Diamond–Blackfan anemia as a cause for anemia in infants, the limitations in making the diagnosis in under-resourced health care systems, and the need for standardized treatment protocols applicable to resource-limited countries. DA - 2019-06-18 DB - OpenUCT DP - University of Cape Town J1 - Journal of Medical Case Reports KW - Diamond–Blackfan anemia KW - DBA KW - Neutropenia KW - Bone marrow failure KW - Rare disease KW - RPL35A LK - https://open.uct.ac.za PY - 2019 T1 - Diamond–Blackfan anemia RPL35A: a case report TI - Diamond–Blackfan anemia RPL35A: a case report UR - http://hdl.handle.net/11427/30492 ER - | en_ZA |
| dc.identifier.uri | https://doi.org/10.1186/s13256-019-2127-3 | |
| dc.identifier.uri | http://hdl.handle.net/11427/30492 | |
| dc.identifier.vancouvercitation | Noel CB. Diamond–Blackfan anemia RPL35A: a case report. Journal of Medical Case Reports. 2019; http://hdl.handle.net/11427/30492. | en_ZA |
| dc.language.rfc3066 | en | |
| dc.rights.holder | The Author(s). | |
| dc.source | Journal of Medical Case Reports | |
| dc.source.uri | https://jmedicalcasereports.biomedcentral.com/ | |
| dc.subject | Diamond–Blackfan anemia | |
| dc.subject | DBA | |
| dc.subject | Neutropenia | |
| dc.subject | Bone marrow failure | |
| dc.subject | Rare disease | |
| dc.subject | RPL35A | |
| dc.title | Diamond–Blackfan anemia RPL35A: a case report | |
| dc.type | Journal Article |