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Title: | Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity |
Authors: | Darshana, T. Bandara, D. Nawarathne, U. de Silva, U. Costa, Y. Pushpakumara, K. Pathirage, S. Basnayake, S. Epa, C. Dilrukshi, P. Wijayawardena, M. Anthony, A. A. Rodrigo, R. Manamperi, A. Smith, F. Allen, A. Menzel, S. Rees, D. Premawardhena, A. |
Keywords: | Sickle cell |
Issue Date: | 2020 |
Publisher: | BioMed Central. |
Citation: | Orphanet Journal of Rare Diseases. 2020;15(1):177. |
Abstract: | BACKGROUND: Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of this "rare" group of patients. RESULTS: All accessible Sickle cell disease patients, totaling 60, including, 51 Sickle β-thalassaemia and 9 homozygous sickle patients were enrolled from seven thalassaemia treatment centres between December 2016-March 2019. The majority of patients were of Sinhalese ethnicity (n = 52, 86.67%). Geographically, two prominent clusters were identified and the distribution of Sickle haemoglobin in the island contrasted markedly with the other haemoglobinopathies. 3/ 9 homozygous sickle patients and 3/ 51 Sickle β-thalassaemia patients were receiving regular transfusion. Joint pain was the commonest clinical symptom among all sickle cell disease patients (n = 39, 65.0%). Dactylitis was significantly more common in homozygous sickle patients compared with the Sickle β-thalassaemia groups (p 0.027). Two genetic backgrounds sickle mutation were identified namely, Arab Indian and Benin. Among the regulators of Foetal hemoglobin in Sickle patients of the present study rs1427407 G > T seemed to be the most prominent modifier, with a significant association with Foetal haemoglobin levels (p 0.04). CONCLUSIONS: Overall, the clinical course of the Asian version of Sickle cell disease in Sri Lanka appears to be milder than that described in India. KEYWORDS: Clinical; Genetic; Severity; Sickle cell; Sri Lanka. |
Description: | Indexed in MEDLINE |
URI: | http://repository.kln.ac.lk/handle/123456789/21217 |
ISSN: | 1750-1172 (Electronic) 1750-1172 (Linking) |
Appears in Collections: | Journal/Magazine Articles |
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File | Description | Size | Format | |
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Sickle cell disease in Sri Lanka.pdf | 1.22 MB | Adobe PDF | View/Open |
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