DIAMOND BLACKFAN ANEMIA: A TERTIARY CARE CENTRE EXPERIENCE

Abstract

Introduction: Diamond Blackfan anemia (DBA) is a rare congenital hypoplastic anemia that usually presents early in infancy. Methods: All consecutive children of DBA attending the Department of Hematology OPD, AIIMS were included in the study. This is a retrospective study, with few cases enrolled prospectively, over the last 3 years. Aim: To study the clinical profile & treatment response of Diamond Blackfan anemia patients at our center. Results: 10 patients were included in the study; male: female ratio was 9:1. Median age was 2.5 yrs, ranging from 4 months to 8 yrs. Anemia requiring frequent blood transfusions was the predominant complaint since infancy. Two children were siblings.Abnormal phenotypic features were observed in 60%. The craniofacial abnormalities seen included triangular facies with DBA phenotype 50 % (5), microcephaly 10 %( 1), low set ears 10 %( 1), low hairline 10 %( 1), wide spaced teeth 10%( 1), malar prominence 10 %( 1), wide spaced toes 10 %( 1), growth failure 30%( 3) and wide spaced nipple10 % (1). Out of 10 patients, 5(50%) are transfusion independent on steroids, 4 patients had partial response with steroids and 1 had partial response on cyclosporine with occasional transfusions and the other 3 are transfusion dependent and on iron chelation. Conclusion: DBA is a rare congenital hypoplastic anemia. About 50% of patients have a good response to steroids.