alexa Congenital Dyserythropoietic Anaemia: Comparison Of Data At The Childrens Hospital And The Institute Of Child Health, Lahore With The International CDA Registry
ISSN: 2161-0665

Pediatrics & Therapeutics
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10th Annual World Congress on Pediatrics,Pediatric Gastroenterology & Nutrition
March 23-25, 2017 Orlando, USA

Saima Farhan
The Children Hospital Lahore, Pakistan
Posters & Accepted Abstracts: Pediat Therapeut
DOI: 10.4172/2161-0665.C1.037
Abstract
Introduction: The congenital dyserythropoietic anaemias (CDA) comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anaemia and by distinct morphological abnormalities of the majority of the erythroblasts in the bone marrow. Whereas, genetic mutations responsible for this disorder have been discovered in European populations; there is still much work to be done in this regard in our part of the world, which could lead to a better management plan for such patients. Objective: The objective of this study was to compare the clinical and laboratory features of CDA patients diagnosed at the Children’s Hospital, Lahore with the International CDA Registry. Materials & Methods: It was a retrospective case series studying data over a 12 year period from 2003-15. Patients diagnosed with CDA on the basis of mild to moderate anaemia, ineffective erythropoiesis and morphological abnormalities of erythroblasts in the bone marrow were included in the study. The parameters studied included age at presentation, gender, severity, skeletal anomalies, number of siblings involved, complete blood count, reticulocyte count, bilirubin levels and bone marrow findings, and these were compared with similar parameters from patients registered with the International CDA Registry. Data analysis was performed using SPSS v22. Results: Significant differences exist between the Pakistani kindred diagnosed with CDA and the international one in terms of age at presentation, severity, skeletal anomalies, no. of siblings involved, haemoglobin levels, RBC count and indices, bilirubin levels and RBC morphological features. However, distribution of the types of CDA, gender and bone marrow findings are almost similar. Conclusion: The clinical and laboratory features of CDA in our patients are significantly different, and more severe, from those registered with the International CDA Registry. As the genetic mutations causing this disease have so far not been mapped in our patients, there could be the possibility of either a different mutation in our population, or an entirely different disorder with bone marrow features similar to CDA.
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