Incidence and Clinico - Hematological pattern of Diamond Blackfan Anemia: 10 years experience in a single center

Abstract

The study aimed to determine the incidence and clinico-hematological pattern of Diamond Blackfan Anemia (DBA), a congenital form of pure red cell aplasia (PRCA). A retrospective observational descriptive cohort study was conducted in the Department of Pediatric Hematology and Transfusion Medicine, The Children’s Hospital and The Institute of Child Health, Lahore, for a period of 10 years (January 2008 to December 2017.) Data was analyzed using SPSS software. Among 19,475 cases reviewed, 74 patients (0.4%) were diagnosed as congenital PRCA with a male to female ratio of 4.2:1 and a mean age of 5months. In this cohort, 23% of patients had a positive family history. Thirty-four percent of patients presented with congenital anomalies involving cleft lip and palate (23.5%), thumb and upper limb defects (20.5%), craniofacial anomalies (14.7%), and cardiac and urogenital malformations in 8.8 and 5.8% patients, respectively. Red blood cell (RBC) counts and hemoglobin (Hb) concentration levels were low with a range of 0.5–3.0 × 1012/μl and 2.5–6.5 g/dl, respectively. Fetal hemoglobin (HbF) levels remained within the range of 2–20%. Bone marrow aspirate showed <5% erythroblasts in all patients. The specific clinico-hematological pattern as described in our study not only helps in early diagnosis and management of the disease and also paves way to establish a data registry.