Affiliations 

  • 1 Department of Hematology, Apollo Hospitals, Dhaka, Bangladesh
  • 2 Unit of Pharmacology, Faculty of Medicine and Defence Health, Universiti Pertahanan Nasional Malaysia (National Defence University of Malaysia), Kuala Lumpur, Malaysia
J Pharm Bioallied Sci, 2020 04 10;12(2):163-170.
PMID: 32742115 DOI: 10.4103/jpbs.JPBS_234_19

Abstract

Introduction: Diamond-Blackfan anemia (DBA), one of a rare group of inherited bone marrow failure syndromes, is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. It can be caused by mutations in the RPS19 gene (25% of the cases).

Methods: This case report describes a 10-month-old boy who presented with 2 months' history of gradually increasing weakness and pallor.

Results: The patient was diagnosed as a case of DBA based on peripheral blood finding, bone marrow aspiration with trephine biopsy reports, and genetic mutation analysis of the RPS19 gene. His father refused hematopoietic stem cell transplantation for financial constraints. Patient received prednisolone therapy with oral folic acid and iron supplements.

Conclusion: Hemoglobin raised from 6.7 to 9.8g/dL after 1 month of therapeutic intervention.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.