确定约旦β地中海贫血变异体的当前流行情况。
Determining the current prevalence of β-thalassemia variants in Jordan.
作者信息
Hasan Diya, Al Tibi Ahmad, Burghel George, Abdelnour Amid
机构信息
Al Balqa Applied University, Allied Medical Sciences, Jordan.
Biolab Diagnostic Laboratories, Amman, Jordan.
出版信息
Arch Med Sci. 2023 Mar 10;19(2):523-527. doi: 10.5114/aoms/161096. eCollection 2023.
INTRODUCTION
This study aimed to define and update the prevalence of β-pathogenic thalassemia variants in Jordan.
METHODS
A total of 158 patients with suspected β-thalassemia minor were examined using CBC and Hb-electrophoresis, and polymerase chain reaction with hybridization to identify the type of pathogenic variants.
RESULTS
Five common and seven rare β-thalassemia pathogenic variants were identified in this study, in addition to three variants that had not been previously reported: -101 [C>T], IVS 1.130 [G>C], and codon 44 [-C].
CONCLUSIONS
The results provide a new update on the existing Jordanian β-thalassemia variant database that will aid the enhancement of diagnostic and treatment protocols for patients.
引言
本研究旨在确定并更新约旦β-致病性地中海贫血变异的流行情况。
方法
对158例疑似轻度β-地中海贫血患者进行了全血细胞计数和血红蛋白电泳检查，并采用聚合酶链反应杂交法来鉴定致病性变异的类型。
结果
本研究鉴定出5种常见和7种罕见的β-地中海贫血致病性变异，此外还有3种此前未报道的变异：-101 [C>T]、IVS 1.130 [G>C]和密码子44 [-C]。
结论
研究结果为现有的约旦β-地中海贫血变异数据库提供了新的更新信息，这将有助于改进患者的诊断和治疗方案。
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