HbS/D-Punjab Disease: Report of 3 Cases from Sri Lanka

Bandara

Nawarathne

et al. 2020

Orphanet J Rare Dis

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.

Section: Introductionmentioning

confidence: 99%

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

Bandara

Nawarathne

et al. 2020

Orphanet J Rare Dis

“…2). Among the 8 studies selected outside India in South Asia, there were 7 case reports with 2 case studies each from Pakistan, Sri Lanka, Bangladesh and one from Nepal [22][23][24][25][26][27][28]. No eligible study was identified from Maldives and Bhutan.…”

Section: Resultsmentioning

confidence: 99%

Hydroxyurea and blood transfusion therapy for Sickle cell disease in South Asia: inconsistent treatment of a neglected disease

Rees

Premawardhena

2021

Orphanet J Rare Dis

Background Hydroxyurea and blood transfusion therapies remain the main therapeutic strategies for Sickle cell disease. Preliminary data suggest substantial variation and inconsistencies in practice of these two therapeutic modalities in South Asia. In this systematic review we searched Medline, Cochrane library and Scopus for articles on usage of hydroxyurea and blood transfusion therapies for sickle cell disease in South Asia published in English between October 2005 and October 2020. Results We selected 41 papers: 33 from India, 3 from Sri Lanka, 2 each from Pakistan and Bangladesh and one from Nepal. Only 14 prospective trials focused on hydroxyurea therapy from which majority (n = 10; 71.4%) adopted fixed low dose (10 mg/kg/day) regimen. With hydroxyurea therapy, 12 and 9 studies reported significant reductions in vaso-occlusive crises and transfusion requirement respectively. Severe anaemia (haemoglobin level < 6–7 g/dl) was the commonest indicator (n = 8) for transfusion therapy followed by vaso-occlusive crisis. Conclusions Published data on the hydroxyurea and transfusion therapies in South Asia are limited and heterogeneous. A clear gap of knowledge exists about the nature of the sickle cell disease in the Indian subcontinent particularly from countries outside India necessitating further evidence-based assessments and interventions.

“…Even though Sri Lanka is geographically adjacent to India, where the prevalence of Hb S is high, particularly among tribal populations, the prevalence of Hb S in Sri Lanka is lower and is con ned mainly to coastal areas (4). No detailed descriptions of SCD in Sri Lanka are available in the literature, although there are several reports for some sporadic cases of SCD, including homozygous sickle cell anaemia (Hb SS), sickle-β thalassaemia (SBT) and Hb SD disease (5)(6)(7)(8)(9)(10).…”

Section: Introductionmentioning

confidence: 99%

Sickle cell disease in Sri Lanka: Clinical and molecular basis and the unanswered questions about disease severeity.

Bandara²,

Nawarathne³

et al. 2020

Preprint

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 presentation 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.