Nasiri Abolfazl, Rahimi Zohreh, Vaisi-Raygani Asad
Students Research Committee, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Department of Clinical Biochemistry, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Int J Hematol Oncol Stem Cell Res. 2020 Apr 1;14(2):140-150.
Hemoglobinopathies are the most common single gene disorders (monogenic disorders) in the world population. Due to specific position of Iran and the presence of multi-ethnic groups in the country, there are many varieties in the molecular genetics and clinical features of hemoglobinopathies in Iran. Hemoglobinopathies include structural variants, thalassemias, and hereditary persistence of fetal hemoglobin. In this review, we look at the common structural variants in various parts of the country along with their hematological and clinical characteristics. Also, we discuss about the burden of the thalassemias in the country, different types, complications, molecular defects and therapy.
血红蛋白病是世界人口中最常见的单基因疾病(单基因障碍)。由于伊朗所处的特殊地理位置以及该国多民族群体的存在,伊朗血红蛋白病的分子遗传学和临床特征存在许多差异。血红蛋白病包括结构变异、地中海贫血和胎儿血红蛋白遗传性持续存在。在本综述中,我们研究了该国不同地区常见的结构变异及其血液学和临床特征。此外,我们还讨论了该国地中海贫血的负担、不同类型、并发症、分子缺陷和治疗方法。