Introduction

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.

Methods

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.

Results

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%.

Conclusion

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.

中文翻译：

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沙特β-地中海贫血患者β-珠蛋白基因和LCR区的生化和分子分析

介绍

β-地中海贫血是一组遗传性血液疾病，由血红蛋白 β 链合成减少或缺失引起，导致从临床无症状个体到严重贫血症状的各种表型。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。

方法

在这项研究中，我们收集了来自沙特阿拉伯不同地区的 140 名β-地中海贫血患者的血液样本。然后提取 DNA，然后使用 PCR 对整个 β-珠蛋白基因和患者样本的基因座控制区 (β-LCR) 进行分子扫描。

结果

在这项研究中发现了 61 个突变，其中包括 22 个以前没有记录在数据库中的新突变。这些缺失包括： (*C-1960-1961 ca/-- del in hbb5) 和 (*c-519C<T homo, *c-390C<T homo in hbb6) 在研究中的β-地中海贫血中最高，这表明与疾病相关的强烈损伤迹象。同时，在患者中发现最常见的其他突变与临床症状的严重程度相关，包括：（c-1960-1961 ca/--del in hbb5），（c-519C<T homo, c-390C<T同源，c-160 G<hbb6 中的 A het），（c.315+282 G<A het，c.316-225G<A het，c.315+342 G > hbb9 中的 A het）。有趣的是，基因缺失的最高百分比发生在外显子 03A 中，约占样本的 33%，而基因添加的最高百分比发生在外显子 03B 中，约占 25%。

结论

这项研究是独一无二的，它展示了几种有助于诊断和治疗的新突变。应进一步利用这些结果来制定更好的管理策略以改善结果。