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Title: | Clinical and molecular heterogeneity among Beta Thalassaemia Intermedia in Sri Lanka |
Authors: | Perera, P.S. Silva, D.P.S.I. Hapugoda, M. Wickramarathne, M.N. Wijesiriwardena, I. Efremov, D.G. Fisher, C.A. Weatherall, D.J. Premawardhena, A. |
Keywords: | molecular heterogeneity |
Issue Date: | 2015 |
Publisher: | Sri lanka Medical Association |
Citation: | Proceedings of the Sri Lanka Medical Association, Anniversary Academic Sessions. 2015; 128: 145 |
Abstract: | INTRODUCTION AND OBJECTIVES: Patients with beta thalassaemia intermedia (Tl) unrelated to haemoglobin E/beta thalassaemia account for an important minority in thalassaemia clinics in Sri Lanka. We investigated the genotypic/phenotypic diversity of this small group of patients. METHOD: Fifty Tl patients identified from five thalassaemia centers were clinically assessed and divided in to severity groups based on agreed criteria. Genetic analysis was done by PCR based techniques. RESULTS: There were 26 mild, 12 moderate and 12 in the severe groups. Ages ranged from 5-65 years. Mean haemoglobin of the whole group was 7.8g/dl. Age at presentation ranged from 3 months - 57 years (mean 16.8yrs) and varied according to severity; 17.8 years in mild to 4.8 years in severe group. 86% were on intermittent transfusions whilst 14% were never transfused. Mean total transfusion load in the three groups ranged from 6, 28 to 89. Majority (60%) had splenomegaly and 12% were splenectomised. The median spleen size of each severity group was 0, 4.5 and 7.5 cm respectively. Thalassaemicfacial features were not_ demonstrable in the majority (86%). Genetic analysis identified the commonest mechanism for Tl to be coexistence of a single beta mutation with excess alpha genes (56%). None of these patients had severe phenotype. Coexistence of two beta mutations with alpha thalassaemia invariably gave rise to severe phenotype. Other mechanisms gave rise to varying disease severity. CONCLUSION: This study highlights the remarkable phenotypic variations in beta Tl in Sri Lanka and identifies some genetic mechanisms which can explain this variation. |
Description: | Oral Presentation Abstract (OP52), 128th Annual Scientific Sessions, Sri Lanka Medical Association, 6th-8th July 2015 Colombo, Sri Lanka |
URI: | http://repository.kln.ac.lk/handle/123456789/10622 |
Appears in Collections: | Conference Papers |
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