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.2020-08-062020-08-062020Orphanet Journal of Rare Diseases. 2020;15(1):177.1750-1172 (Electronic)1750-1172 (Linking)http://repository.kln.ac.lk/handle/123456789/21217Indexed in MEDLINEBACKGROUND: 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-USSickle cellArticle