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DC Field | Value | Language |
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dc.contributor.author | Darshana, T. | |
dc.contributor.author | Bandara, D. | |
dc.contributor.author | Nawarathne, U. | |
dc.contributor.author | de Silva, U. | |
dc.contributor.author | Costa, Y. | |
dc.contributor.author | Pushpakumara, K. | |
dc.contributor.author | Pathirage, S. | |
dc.contributor.author | Basnayake, S. | |
dc.contributor.author | Epa, C. | |
dc.contributor.author | Dilrukshi, P. | |
dc.contributor.author | Wijayawardena, M. | |
dc.contributor.author | Anthony, A. A. | |
dc.contributor.author | Rodrigo, R. | |
dc.contributor.author | Manamperi, A. | |
dc.contributor.author | Smith, F. | |
dc.contributor.author | Allen, A. | |
dc.contributor.author | Menzel, S. | |
dc.contributor.author | Rees, D. | |
dc.contributor.author | Premawardhena, A. | |
dc.date.accessioned | 2020-08-06T07:15:51Z | |
dc.date.available | 2020-08-06T07:15:51Z | |
dc.date.issued | 2020 | |
dc.identifier.citation | Orphanet Journal of Rare Diseases. 2020;15(1):177. | en_US |
dc.identifier.issn | 1750-1172 (Electronic) | |
dc.identifier.issn | 1750-1172 (Linking) | |
dc.identifier.uri | http://repository.kln.ac.lk/handle/123456789/21217 | |
dc.description | Indexed in MEDLINE | en_US |
dc.description.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. | en_US |
dc.language.iso | en_US | en_US |
dc.publisher | BioMed Central. | en_US |
dc.subject | Sickle cell | en_US |
dc.title | Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity | en_US |
dc.type | Article | en_US |
Appears in Collections: | Journal/Magazine Articles |
Files in This Item:
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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