Hamid Mohammad, Keikhaei Bijan, Galehdari Hamid, Saberi Alihossein, Sedaghat Alireza, Shariati Gholamreza, Mohammadi-Anaei Marziye
Department of Molecular Medicine, Biotechnology Research Center Pasteur Institute of Iran Tehran Iran.
Research Center for Thalassemia and Hemoglobinopathy, Health Institute Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.
EJHaem. 2021 Jul 19;2(3):366-374. doi: 10.1002/jha2.262. eCollection 2021 Aug.
The genotype and phenotype correlation between coinheritance of heterozygous beta-thalassemia with the alpha-globin triplication is unclear. In this study we have investigated and reviewed alpha triplication frequency in beta-thalassemia carriers, sickle cell trait, and healthy individuals and its effect on hematological and phenotypical changes. In this study, 4005 beta-thalassemia carriers, 455 sickle cell trait, and 2000 healthy individuals were included. Molecular characterization of beta and alpha-thalassemia was performed. The frequencies of alpha-globin triplication in beta-thalassemia carriers, sickle cell trait, and healthy individuals were 67 (1.67%), 4 (0.88%), and 18 (0.9%), respectively. In total, the frequency of alpha-triplications is approximately 89 (1.39%) in Khuzestan province, South of Iran population. We have compared the average hematological parameters of beta-thalassemia carriers, sickle cell trait, and healthy individuals with and without alpha gene triplication. This mutation did not show any significant effect on the change of blood indices, neither in healthy individuals nor in sickle cell trait and beta-thalassemia carriers. Therefore, there is no need to take more notice of anti 3.7 mutation in beta-thalassemia carriers is opposed with some studies reported that the presence of excess alpha-globin genes in beta-thalassemia carriers can lead to the phenotype of beta-thalassemia intermedia. Therefore, not every individual with triplicated alpha globin coinherited with beta-thalassemia trait will have a significantly lower Hb than normal, and it is highly likely that none of them will need transfusion.
杂合β地中海贫血与α珠蛋白三倍体共遗传之间的基因型和表型相关性尚不清楚。在本研究中，我们调查并回顾了β地中海贫血携带者、镰状细胞性状者和健康个体中的α三倍体频率及其对血液学和表型变化的影响。本研究纳入了4005名β地中海贫血携带者、455名镰状细胞性状者和2000名健康个体。对β和α地中海贫血进行了分子特征分析。β地中海贫血携带者、镰状细胞性状者和健康个体中α珠蛋白三倍体的频率分别为67例（1.67%）、4例（0.88%）和18例（0.9%）。总体而言，在伊朗南部胡齐斯坦省人群中，α三倍体的频率约为89例（1.39%）。我们比较了有和没有α基因三倍体的β地中海贫血携带者、镰状细胞性状者和健康个体的平均血液学参数。该突变对健康个体、镰状细胞性状者和β地中海贫血携带者的血液指标变化均未显示出任何显著影响。因此，与一些研究报告相反，β地中海贫血携带者无需更多关注抗3.7突变，那些研究报告称β地中海贫血携带者中过量α珠蛋白基因的存在可导致中间型β地中海贫血的表型。因此，并非每个与β地中海贫血性状共遗传α珠蛋白三倍体的个体的血红蛋白水平都会显著低于正常水平，而且他们极有可能都不需要输血。
