TY - JOUR
T1 - Sickle cell disease in Sri Lanka
T2 - Clinical and molecular basis and the unanswered questions about disease severity
AU - Darshana, Thamal
AU - Bandara, Dayananda
AU - Nawarathne, Upul
AU - De Silva, Udaya
AU - Costa, Yasinta
AU - Pushpakumara, Kalavitigoda
AU - Pathirage, Sumithra
AU - Basnayake, Seuwandi
AU - Epa, Chamila
AU - Dilrukshi, Pradeepa
AU - Wijayawardena, Maheshaka
AU - Anthony, Angela A.
AU - Rodrigo, Rexan
AU - Manamperi, Aresha
AU - Smith, Frances
AU - Allen, Angela
AU - Menzel, Stephan
AU - Rees, David
AU - Premawardhena, Anuja
PY - 2020/7/6
Y1 - 2020/7/6
N2 - 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.
AB - 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.
KW - Clinical
KW - Genetic
KW - Severity
KW - Sickle cell
KW - Sri Lanka
UR - http://www.scopus.com/inward/record.url?scp=85087712261&partnerID=8YFLogxK
U2 - 10.1186/s13023-020-01458-w
DO - 10.1186/s13023-020-01458-w
M3 - Article
C2 - 32631379
AN - SCOPUS:85087712261
SN - 1750-1172
VL - 15
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 177
ER -