Abbas Raghad A, Hassan Riyad H, Taghlubee Israa M, Mohammed Safaa I, Mohammed Huda H, Hasan Hanan H, Judi Ashwaq T, Ali Luqman S, Mohammed Wisam J, Shihab Hiba M, Hussein Thamir A, Al-Kareem Nawras A, Hassan Meaad K, Al-Allawi Nasir
Reproductive Health and School Health Department, Ministry of Health, Baghdad, Iraq.
Public Health Directorate, Ministry of Health, Baghdad, Iraq.
Hemoglobin. 2024 Sep;48(5):308-313. doi: 10.1080/03630269.2024.2418507. Epub 2024 Oct 22.
To determine the prevalence and molecular basis of β-thalassemia in the Northeastern Iraqi province of Kirkuk, a total of 3954 individuals attending the provincial premarital screening center were recruited. The prevalence of β-thalassemia minor among the screened individuals was found to be 3.0%, while those of Hemoglobin E, and δβ-thalassemia carrier states were 0.05%, and 0.03% respectively. Molecular characterization of the β-thalassemia mutations was achieved by multiplex PCR and reverse hybridization, followed by next generation sequencing for those left uncharacterized by the former technique. Among 19 β-thalassemia mutations identified, seven were the most frequent, namely: IVS-II-1 (G > A), codon 8/9 (+G), IVS-I-6 (T > C), IVS-I-110 (G > A), IVS-I-I (G > A), IVS-I-5 (G > C) and codon 44 (-C) accounting for 78.5% of the mutations. This study further illustrates the heterogeneity of the spectrum of β-thalassemia in different parts of Iraq, and provides an essential step to facilitate prenatal diagnosis in the setting of a future national thalassemia prevention program.
为了确定伊拉克东北部基尔库克省β地中海贫血的患病率和分子基础，招募了总共3954名前往该省婚前筛查中心的个体。在筛查个体中，发现β地中海贫血轻型的患病率为3.0%，而血红蛋白E和δβ地中海贫血携带状态的患病率分别为0.05%和0.03%。通过多重PCR和反向杂交对β地中海贫血突变进行分子特征分析，对于那些前一种技术未能鉴定的突变，随后进行下一代测序。在鉴定出的19种β地中海贫血突变中，有7种最为常见，即：IVS-II-1（G＞A）、密码子8/9（+G）、IVS-I-6（T＞C）、IVS-I-110（G＞A）、IVS-I-I（G＞A）、IVS-I-5（G＞C）和密码子44（-C），占突变的78.5%。本研究进一步说明了伊拉克不同地区β地中海贫血谱的异质性，并为未来国家地中海贫血预防计划中的产前诊断提供了重要的一步。
