Beyond the Common Causes of Anemia: A Comprehensive Case Study on Diamond Blackfan Anemia
Jahnavi G.
*
TVM College of Pharmacy, Ballari, Karnataka, India.
Sahana H P
TVM College of Pharmacy, Ballari, Karnataka, India.
D Keerthana
TVM College of Pharmacy, Ballari, Karnataka, India.
Savanthi Chitrahasini
TVM College of Pharmacy, Ballari, Karnataka, India.
*Author to whom correspondence should be addressed.
Abstract
Background: Diamond blackfan syndrome is a rarest anemic disease with characteristics of small jaw & wide set eyes, etc. It is gentical disorder rating a low incidence rate world wide. The diagnostic criteria is mainly based upon the clinical presentation, laboratory investigation and genetic testing. The primary treatment includes corticosteroids, iron chelation therapy, blood transfusion and so on.
Case Presentation: A child admitted with a complaints excessive cry, pallor, multiple episodes of convulsion, at presentation child was hemodynamically stable, pallor was positive. On clinical laboratory investigations, child is genetically proven diamond blackfan anemia. The primary treatment was initiated.
Conclusion: DBA being a rare gentical disorder, corticosteroids remain the first-line treatment, while transfusions are employed to alleviate anemia-related symptoms. Bone marrow transplantation offers the potential to enhance patient outcomes.
Keywords: Diamond blackfan syndrome, cellular bone marrow, erythropoiesis, Denovo mutations