Hasan Diya, Al Tibi Ahmad, Burghel George, Abdelnour Amid
Al Balqa Applied University, Allied Medical Sciences, Jordan.
Biolab Diagnostic Laboratories, Amman, Jordan.
Arch Med Sci. 2023 Mar 10;19(2):523-527. doi: 10.5114/aoms/161096. eCollection 2023.
This study aimed to define and update the prevalence of β-pathogenic thalassemia variants in Jordan.
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.
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].
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.
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。
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。
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]。
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。
