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
