A Case Report of Diamond-Blackfan Anaemia with RPS19 Mutation

Authors

  • Quazi Smita Haque
  • Md. Maruf Al Hasan Evercare Hospitals, Dhaka
  • Muhammad Shahidul Islam Sikder Evercare Hospitals, Dhaka
  • Sazzad Zayed Chowdhury Evercare Hospitals, Dhaka
  • Masba Uddin Chowdhury Evercare Hospitals, Dhaka
  • Abu Jafar Mohammed Saleh Evercare Hospitals, Dhaka

DOI:

https://doi.org/10.37545/haematoljbd202167

Keywords:

Diamond–Blackfan anemia, DBA, Bone marrow failure, Rare disease, RPS19

Abstract

Diamond Blackfan Anaemia (DBA) is a rare disorder which presents with anaemia in early childhood. This heterogenous disorder is mainly autosomal dominantly inherited. Significantproportions of the cases are associated with craniofacial anomalies and some cases may end up developing malignancy. The diagnosis is established by blood investigations, and bone marrow studies in which red cell precursors are reduced or absent. Screening for the mutations including those encoding for ribosomal proteins in the patient and the family members is confirmatory for diagnosis. Human Leukocyte Antigen (HLA) matched hemopoietic stem cell transplantation is the definitive treatment of choice. In other cases, corticosteroids have been tried. The haemoglobin level is maintained with packed red cell transfusion. We are presenting here a male baby who had anaemia soon after birth and was brought to us at the age of 1 year 3 months. The diagnosis of DBA was made since the patient presented with anaemia and supportive biochemical and histological evidence. Genetic screening revealed mutation in ribosomal protein S19 (RPS19) gene in the baby.

Author Biography

Quazi Smita Haque

Apollo Hospitals Dhaka

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Published

06.05.2021

How to Cite

1.
Haque QS, Al Hasan MM, Sikder MSI, Chowdhury SZ, Chowdhury MU, Saleh AJM. A Case Report of Diamond-Blackfan Anaemia with RPS19 Mutation. Haematol J Bangladesh [Internet]. 2021 May 6 [cited 2021 Oct. 19];5(01):37-41. Available from: https://journal.hematologybd.org/index.php/haematoljbd/article/view/67

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Case Report(s)