Hassan Meaad K, Abbas Raghad A, Hassan Riyad A, Taghlubee Israa M, Abd Al Majeed Sara S, Khaleel Ghassan A, Mohammed Huda H, Hassoon Sundus J, Hatem Hassan S, Hasan Hanan H, Judi Ashwaq T, Mohammed Wisam J, Sami Dina, Hussein Thamir A, Al-Kareem Nawras A, Al-Allawi Nasir
Department of Pediatrics, College of Medicine, University of Basrah, Basrah, Iraq.
Reproductive Health and School Health Department, Ministry of Health, Baghdad, Iraq.
Hemoglobin. 2025 Jan;49(1):31-37. doi: 10.1080/03630269.2024.2446360. Epub 2025 Jan 7.
The knowledge of the prevalence and molecular basis of β-hemoglobinopathies constitutes an important prerequisite for an effective prevention program. To address this issue in Iraq's capital, Baghdad, a total of 12526 individuals (6263 couples) attending three main Premarital Screening centers were enrolled. Individuals were labeled as β-hemoglobin disorders based on full blood counts and high-performance liquid chromatography. For those identified as β-thalassemia trait, molecular characterization was achieved by multiplex PCR and reverse hybridization, followed by next-generation sequencing where appropriate. The prevalence of β-thalassemia and δβ-thalassemia traits were 3.5% and 0.01% respectively. For structural variants: sickle cell, hemoglobin D, C, and E traits were documented in 0.37%, 0.07%, 0.05%, and 0.04% respectively. Twenty-two couples were identified as couples at risk of having affected babies with hemoglobinopathies (3.5/1000). A total of 23 different β-thalassemia mutations were identified in studied samples, the eight most frequent of which were IVS-II-I (G > A), IVS-I-110 (G > A), IVS-I-6 (T > C), Codon 44 (-C), IVS-I-5 (G > C), IVS-I-1 (G > A), IVS-I-130 (G > C), and IVS-II-745 (C > G), accounting for 74.7% of the total mutations. In conclusion, the study illustrates the heterogeneity of β-thalassemia mutations in Iraq's capital, and identified several service indicators for prevention. Accordingly, it constitutes an important step in the setup for an effective prevention program of hemoglobinopathies.
了解β-珠蛋白生成障碍性贫血的患病率和分子基础是有效预防计划的重要前提。为解决伊拉克首都巴格达的这一问题，共有12526名个体（6263对夫妇）参与了三个主要的婚前筛查中心。根据全血细胞计数和高效液相色谱法将个体标记为β-珠蛋白生成障碍性贫血疾病。对于那些被鉴定为β-地中海贫血特征的个体，通过多重PCR和反向杂交进行分子特征分析，必要时进行下一代测序。β-地中海贫血和δβ-地中海贫血特征的患病率分别为3.5%和0.01%。对于结构变异：镰状细胞、血红蛋白D、C和E特征的记录率分别为0.37%、0.07%、0.05%和0.04%。22对夫妇被确定为有生育患血红蛋白病婴儿风险的夫妇（3.5/1000）。在研究样本中总共鉴定出23种不同的β-地中海贫血突变，其中最常见的8种是IVS-II-I（G＞A）、IVS-I-110（G＞A）、IVS-I-6（T＞C）、密码子44（-C）、IVS-I-5（G＞C）、IVS-I-1（G＞A）、IVS-I-130（G＞C）和IVS-II-745（C＞G），占总突变的74.7%。总之，该研究说明了伊拉克首都β-地中海贫血突变的异质性，并确定了几个预防服务指标。因此，它是建立有效的血红蛋白病预防计划的重要一步。
