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Jahan D, Al Hasan MM, Haque M. Diamond-Blackfan anemia with mutation in . J Pharm Bioallied Sci. 2020;12(2):163-170doi: 10.4103/jpbs.JPBS_234_19.
Jahan, D., Al Hasan, M. M., & Haque, M. (2020). Diamond-Blackfan anemia with mutation in . Journal of pharmacy & bioallied sciences, 12(2), 163-170. https://doi.org/10.4103/jpbs.JPBS_234_19
Jahan, Dilshad, et al. "Diamond-Blackfan anemia with mutation in ." Journal of pharmacy & bioallied sciences vol. 12,2 (2020): 163-170. doi: https://doi.org/10.4103/jpbs.JPBS_234_19
Jahan D, Al Hasan MM, Haque M. Diamond-Blackfan anemia with mutation in . J Pharm Bioallied Sci. 2020 Apr-Jun;12(2):163-170. doi: 10.4103/jpbs.JPBS_234_19. Epub 2020 Apr 10. PMID: 32742115; PMCID: PMC7373105.
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J Pharm Bioallied Sci. 2020 Apr-Jun;12(2):163-170. doi: 10.4103/jpbs.JPBS_234_19. Epub 2020 Apr 10.

Diamond-Blackfan anemia with mutation in .

Journal of pharmacy & bioallied sciences

Dilshad Jahan, Md Maruf Al Hasan, Mainul Haque

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.

PMID: 32742115 PMCID: PMC7373105 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

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

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

© 2020 Journal of Pharmacy and Bioallied Sciences.

Keywords: Anemia; Bone Marrow; Diamond–Blackfan anemia; Genetic and Rare Disease; Prednisolone; RPS19 gene; hematopoietic stem cell transplantation

Conflict of interest statement

There are no conflicts of interest.

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