Diamond Blackfan Anemia - A Case Report

Lillian Percy Kujur ^[2] | Amalorpavamari Lucas ^[6] | Jayakumari J.

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.

Keywords: Anemia, Diamond Blackfan anemia, genetic disorder

Edition: Volume 9 Issue 10, October 2020,

Pages: 55 - 60

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Diamond Blackfan Anemia - A Case Report

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