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 |