Lillian Percy Kujur, Amalorpavamari Lucas, 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