A Case Report of Diamond-Blackfan Anaemia with RPS19 Mutation

Haematology Journal of Bangladesh

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Field Value
 
Title A Case Report of Diamond-Blackfan Anaemia with RPS19 Mutation
 
Creator Haque, Quazi Smita
Al Hasan, Md. Maruf
Sikder, Muhammad Shahidul Islam
Chowdhury, Sazzad Zayed
Chowdhury, Masba Uddin
Saleh, Abu Jafar Mohammed
 
Subject Diamond–Blackfan anemia
DBA
Bone marrow failure
Rare disease
RPS19
 
Description 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.
 
Publisher Haematology Society of Bangladesh
 
Date 2021-05-06
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
 
Format text/html
application/pdf
 
Identifier https://journal.hematologybd.org/index.php/haematoljbd/article/view/67
10.37545/haematoljbd202167
 
Source Haematology Journal of Bangladesh; Vol. 5 No. 01 (2021); 37-41
2707-1405
2523-1219
 
Language eng
 
Relation https://journal.hematologybd.org/index.php/haematoljbd/article/view/67/187
https://journal.hematologybd.org/index.php/haematoljbd/article/view/67/193
 
Rights Copyright (c) 2021 Quazi Smita Haque, Md. Maruf Al Hasan, Muhammad Shahidul Islam Sikder, Sazzad Zayed Chowdhury, Masba Uddin Chowdhury, Abu Jafar Mohammed Saleh
https://creativecommons.org/licenses/by-nc/4.0
 

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