Abstract
Diamond-Blackfan anaemia (DBA) is a rare genetic disorder characterised by a decrease in the production of red blood cells due to bone marrow malfunction. The estimation of disease occurrence is approximately 1 in 100 000–2 00 000 live births. This paper presents the case of a 7-year-old male child diagnosed with DBA at the age of 4 months. The diagnosis was established with haematological findings, bone marrow biopsy and molecular testing. The case was managed successfully for dental symptoms without any complication.
Reference35 articles.
1. Young N . Inherited bone marrow failure syndromes: introduction. Philadelphia: WB Saunders Company, 1994.
2. ANAEMIA OF INFANCY AND EARLY CHILDHOOD
3. Hypoplastic anemia;Diamond;Am J Dis Child,1938
4. Diamond-Blackfan syndrome in adult patients
5. The genetic landscape of Diamond-Blackfan anemia;Ulirsch;Am J Hum Genet,2019
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