Clinical profile of children with sickle cell disease in the eastern region of Saudi Arabia

Abdalla Mohamed Zayed , Sulaiman AL-Muhaimeed , Turki AL-Otaibi , Hossam Aldosari , Tahani Alotaibi , Yasser Awadallah , Basheer Ahmed , Shangrila-Joy Ancheta , Ahmed Hassan , Omer AL-Rasheedi
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引用次数: 0

Abstract

Background

Sickle cell disease (SCD) is a monogenic disorder in which a single gene mutation interacts with variable environmental stimuli to modulate the disease's phenotypic expression. Patients living in the eastern region of Saudi Arabia (SA) have a milder phenotype than those living in the southwestern (SW). This phenotypic variability is thought to be related to the difference in genetic haplotypes between the regions. Little is known about the impact of the environment on the natural history of the disease in this country. The aim of this study is to demonstrate the clinical profiles of eastern and SW children with SCD living in the same environment, the eastern region of SA.

Methods

This is a retrospective cross-sectional study of children with SCD over the period from January 2010 to December 2020, who attended the outpatient clinics and the inpatient Pediatric Department, King Fahad Military Medical Complex, Dhahran, SA. The demographic data and different symptoms and complications of the disease were collected from their files and analyzed statistically.

Results

The study included 340 children with SCD: 191 (56.2 %) males and 149 females (43.8 %). There were two groups of patients: SW (246) and eastern (94). Compared with the eastern group, SW children had lower baseline hemoglobin (HB) and hemoglobin F (HBF) levels (8.6 vs. 9.2 gm/dL and 14.4 % vs. 18.4 %, p < .05), respectively, and a higher hemoglobin S (HBS) and mean corpuscular volume (MCV) (69.7 % vs. 65.6 % and 79.3 vs. 75.0, p<.05), respectively. Stroke occurred exclusively in SW children, who also experienced more acute chest syndrome (ACS) (32.1 % vs. 19.1 %, p<.05) and received more blood transfusions (61.8 % vs. 46.8 %, p < 0.05). The prevalence of gallstones (GS), vaso-occlusive crisis (VOC), splenic sequestration crisis (SSC), and hemolytic crises were higher in SW children, but the difference was not statistically significant (p > 0.05). Avascular necrosis of the femoral head (AVN) occurred more in the eastern group, but this also lacked statistical significance (p > 0.05).

Conclusion

Southwestern children with SCD residing in eastern SA exhibit a more severe disease profile than their eastern counterparts. While they share many environmental factors, apparent genetic differences exist. As not all genetic or environmental factors were examined, we propose that this difference in severity is likely, at least partially, attributable to genetic rather than environmental factors.
沙特阿拉伯东部地区镰状细胞病儿童的临床概况
背景镰状细胞病(SCD)是一种单基因疾病,其中单个基因突变与可变环境刺激相互作用以调节疾病的表型表达。生活在沙特阿拉伯东部地区(SA)的患者比生活在西南部(SW)的患者表型更温和。这种表型变异被认为与区域间遗传单倍型的差异有关。我们对环境对这个国家疾病的自然历史的影响知之甚少。本研究的目的是证明生活在SA东部地区同一环境下的东部和西南地区SCD儿童的临床概况。方法回顾性横断面研究2010年1月至2020年12月期间在达赫兰法赫德国王军事医疗中心门诊和儿科住院的SCD患儿。从患者档案中收集其人口学资料及不同的疾病症状和并发症,并进行统计分析。结果共纳入340例SCD患儿,其中男性191例(56.2%),女性149例(43.8%)。有两组患者:西南组(246)和东部组(94)。与东部组相比,SW组儿童的基线血红蛋白(HB)和血红蛋白F (HBF)水平较低(8.6 vs. 9.2 gm/dL, 14.4% vs. 18.4%, p <;血红蛋白S (HBS)和平均红细胞体积(MCV)分别升高(69.7% vs. 65.6%和79.3% vs. 75.0, p < 0.05)。中风仅发生在SW儿童中,他们也经历了更多的急性胸综合征(ACS) (32.1% vs. 19.1%, p< 0.05)和更多的输血(61.8% vs. 46.8%, p<;0.05)。胆结石(GS)、血管闭塞危象(VOC)、脾隔离危象(SSC)和溶血危象的发生率在SW患儿中较高,但差异无统计学意义(p >;0.05)。股骨头缺血性坏死(AVN)在东部组发生率更高,但也缺乏统计学意义(p >;0.05)。结论西南地区SCD患儿比东部地区SCD患儿病情更为严重。虽然它们有许多共同的环境因素,但存在明显的遗传差异。由于并非所有的遗传或环境因素都被检查过,我们认为这种严重程度的差异可能至少部分归因于遗传因素而不是环境因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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