Department of Medical Laboratory Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka.
National Thalassaemia Centre, Teaching Hospital, Kurunegala, Sri Lanka.
Orphanet J Rare Dis. 2020 Jul 6;15(1):177. doi: 10.1186/s13023-020-01458-w.
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.
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).
Overall, the clinical course of the Asian version of Sickle cell disease in Sri Lanka appears to be milder than that described in India.
尽管先前已有报道称在斯里兰卡发现了镰状细胞病的病例报告和有限的病例系列，但迄今为止，尚未有人试图对这组“罕见”患者进行全面的基因型-表型分析。
我们从 2016 年 12 月至 2019 年 3 月期间的 7 个地中海贫血治疗中心共招募了 60 名可及的镰状细胞病患者，包括 51 名镰状β-地中海贫血和 9 名纯合镰状细胞病患者。大多数患者为僧伽罗族裔（n=52，86.67%）。从地理上看，发现了两个突出的聚集区，该岛的镰状血红蛋白分布与其他血红蛋白病明显不同。9 名纯合镰状细胞病患者中有 3 名和 51 名镰状β-地中海贫血患者中有 3 名接受定期输血。关节痛是所有镰状细胞病患者中最常见的临床症状（n=39，65.0%）。与镰状β-地中海贫血组相比，纯合镰状细胞病患者的指（趾）炎更为常见（p=0.027）。本研究中镰状患者的两种遗传背景突变分别是阿拉伯-印度和贝宁。在镰状患者胎儿血红蛋白的调节因子中，rs1427407 G>T 似乎是最主要的修饰因子，与胎儿血红蛋白水平显著相关（p=0.04）。
总的来说，斯里兰卡镰状细胞病的亚洲版本的临床过程似乎比印度描述的更为轻微。
