Diamond Blackfan Anemia - A Case Report
Journal: International Journal of Science and Research (IJSR) (Vol.9, No. 10)Publication Date: 2020-10-05
Authors : Lillian Percy Kujur; Amalorpavamari Lucas; Jayakumari J.;
Page : 55-60
Keywords : Anemia; Diamond Blackfan anemia; genetic disorder;
Abstract
Diamond Blackfan Anemia (DBA) is a rare bone marrow failure disorder that is associated with mutations in components of the ribosome. DBA is a sporadic inherited anemia with broad spectrum of anomalies that are presented soon after delivery. It is characterized by anemia due to defect in the formation of the red blood cells. A plethora of clinical manifestations are observed. A set of complex diagnostic investigations are required to confirm the diagnosis. Hematopoietic stem cell transplant from a matched sibling donor is currently the only curative treatment. Emerging therapeutic approaches with gene therapy are showing promising outcomes. This article describes a case report with medical and nursing management carried out in a tertiary care hospital in Southern India which is eminent in Hematopoietic stem cell transplantation in India.
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