A Case Report of Diamond-Blackfan Anaemia with RPS19 Mutation

Haematology Journal of Bangladesh

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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
Bone marrow failure
Rare disease
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
Format text/html
Identifier https://journal.hematologybd.org/index.php/haematoljbd/article/view/67
Source Haematology Journal of Bangladesh; Vol. 5 No. 01 (2021); 37-41
Language eng
Relation https://journal.hematologybd.org/index.php/haematoljbd/article/view/67/187
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

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