Alafari Hayat, Alenzi Faris Q
Dept. of Biology, College of Science, PNU, Riyadh, Saudi Arabia.
College of Applled Medical Sciences, Prince Sattam bin Abdulaziz University, Al-Kharj, Saudi Arabia.
Saudi J Biol Sci. 2020 Nov;27(11):3106-3112. doi: 10.1016/j.sjbs.2020.08.044. Epub 2020 Sep 4.
Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of beta chain of hemoglobin resulting in variable phenotypes ranging from clinically asymptomatic individuals to severe anemia symptoms. The objective of this study is to screen for the whole beta gene globulin and the LCR region and its clinical relevance in β-Thalassemia patients.
In this study, we collected 140 blood patients' samples with beta-thalassemia from different areas of Saudi Arabia. DNA was then extracted then the molecular scanning for the whole β-globin gene and the Locus control region (β-LCR) for patients' samples, was run using PCR.
Sixty one mutations found in this study, including 22 new mutations not recorded in the database before. These deletions including: (*C-1960-1961 ca/-- del in hbb5) and (*c-519C<T homo, *c-390C<T homo in hbb6) were the highest among beta-thalassemia in the study, which indicates a strong sign of injury associated with the disease. Meanwhile, There are other mutations found most common among patients and was linked with the severity of clinical symptoms including: (c-1960-1961 ca/-- del in hbb5), (c-519C<T homo, c-390C<T homo, c-160 G<A het in hbb6), (c.315+282 G<A het, c.316-225G<A het, c.315+342 G > A het in hbb9). Interestingly, the highest percentage in gene deletion occurred in exon 03A by ∼33% of the samples, while the highest percentage in gene addition of the gene occurred in exon 03B by ∼25%.
This study was unique to show several new mutations that would help in diagnosis and treatment. These results should be taken further to set up better management strategies to improve outcomes.
β地中海贫血是一组遗传性血液疾病，由血红蛋白β链合成减少或缺乏引起，导致从临床无症状个体到严重贫血症状的多种表型。本研究的目的是筛查整个β基因球蛋白和LCR区域及其在β地中海贫血患者中的临床相关性。
在本研究中，我们收集了来自沙特阿拉伯不同地区的140例β地中海贫血患者的血液样本。然后提取DNA，使用聚合酶链反应（PCR）对患者样本进行整个β珠蛋白基因和基因座控制区（β-LCR）的分子扫描。
本研究中发现了61种突变，包括22种之前未在数据库中记录的新突变。这些缺失包括：（hbb5中的C-1960-1961 ca/-- del）和（hbb6中的c-519C<T纯合子，*c-390C<T纯合子），是本研究中β地中海贫血中最高的，这表明与该疾病相关的损伤迹象强烈。同时，还发现了其他在患者中最常见的突变，并且与临床症状的严重程度相关，包括：（hbb5中的c-1960-1961 ca/-- del），（hbb6中的c-519C<T纯合子，c-390C<T纯合子，c-160 G<A杂合子），（hbb9中的c.315+282 G<A杂合子，c.316-225G<A杂合子，c.315+342 G > A杂合子）。有趣的是，基因缺失的最高百分比出现在外显子03A中，约占样本的33%，而基因添加的最高百分比出现在外显子03B中，约占25%。
本研究独特地展示了几种有助于诊断和治疗的新突变。这些结果应进一步推进，以制定更好的管理策略来改善治疗效果。
