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Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity

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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 Premawardhena, A.
dc.date.accessioned 2022-08-31T04:00:36Z
dc.date.available 2022-08-31T04:00:36Z
dc.date.issued 2020
dc.identifier.citation Darshana, T., et al. (2020). Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity. Orphanet Journal of Rare Diseases (2020) 15:177 en_US
dc.identifier.uri http://dr.lib.sjp.ac.lk/handle/123456789/11866
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 en_US
dc.language.iso en en_US
dc.subject Sickle cell, Sri Lanka, Genetic, Clinical, Severity 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


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