Asghari Ahmadabad Mona, Pourreza Noushin, Ramezanpour Setareh, Baghersalimi Adel, Enshaei Mersedeh, Askari Marjan, Alizadeh Amirhossein, Izadi Elahe, Darbandi Bahram
Pediatric Department, Pediatric Diseases Research Center, 17 Shahrivar Children's Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
Department of Genetic Disorders,Razi Pathobiology and Genetics Laboratory, Rasht, Iran.
Front Pediatr. 2023 Mar 22;11:1039148. doi: 10.3389/fped.2023.1039148. eCollection 2023.
Alpha thalassemia is one of the most common hereditary hemoglobin disorders worldwide, particularly in the Middle East, including Iran. Therefore, determining the spectrum and distribution of alpha thalassemia mutation is a fundamental component of preventive approaches and management strategies.
The present study reviews the genetic testing and blood laboratory results of 455 candidates eligible for marriage who were suspected of being thalassemia carriers and on whom genetic testing was performed from 21 March 2013 to 31 December 2020 in Rasht City.
A total of 114 (25.05%) alpha thalassemia cases were identified. Fifteen different alpha mutations were found. The most common mutation among the study population was -α deletion in 55 patients (48.24%), followed by Hb Constant Spring (C.S) in 21 patients (18.42%) and poly A2 in 16 (14.03%). Also, most of the patients were silent carriers. The deletion type of mutation was much more common than non-deletion mutations.
Our study reveals genetic heterogeneity and alpha thalassemia diversity among the Rasht City population. We expect that these findings will help guide premarital screening and genetic counseling, prenatal diagnosis of thalassemia, preventive strategy development, as well as a compilation of the alpha thalassemia catalog in Guilan province.
α地中海贫血是全球最常见的遗传性血红蛋白疾病之一，在中东地区尤为常见，包括伊朗。因此，确定α地中海贫血突变的谱系和分布是预防措施和管理策略的基本组成部分。
本研究回顾了2013年3月21日至2020年12月31日在拉什特市对455名疑似地中海贫血携带者且进行了基因检测的适婚候选人的基因检测和血液实验室结果。
共鉴定出114例（25.05%）α地中海贫血病例。发现了15种不同的α突变。研究人群中最常见的突变是55例患者（48.24%）中的-α缺失，其次是21例患者（18.42%）中的血红蛋白Constant Spring（C.S）和16例患者（14.03%）中的多聚A2。此外，大多数患者为静止型携带者。缺失型突变比非缺失型突变更为常见。
我们的研究揭示了拉什特市人群中的遗传异质性和α地中海贫血多样性。我们期望这些发现将有助于指导婚前筛查和遗传咨询、地中海贫血的产前诊断、预防策略的制定以及吉兰省α地中海贫血目录的编制。
