Ghadami Elham, Tamaddoni Ahmad, Sedaghat Sadegh, Tabaripour Reza, Pourreza Baboli Hadis, Akhavan-Niaki Haleh
1Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran.
2Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran.
Indian J Clin Biochem. 2019 Jan;34(1):115-117. doi: 10.1007/s12291-018-0765-7. Epub 2018 Jun 18.
α-Thalassemia is one of the most common monogenic diseases worldwide. The combination of alpha-chain variants with thalassemia mutations may lead to clinical and hematological characteristics, which is of importance for genetic counseling. The present study describes for the first time a rare α1-globin nonsense mutation, codon 99 (: c.298A>T) associated with a α-chain variant Hb Fontainebleau (: c.64G>C) in a family from northern Iran. The case is a 23-year-old man with hypochromic microcytic anemia that requested for prenatal diagnosis. The combination of α1-globin mutation and Hb Fontainebleau can cause clinical and hematologic features of thalassemia. This combination also highlights the important heterogeneity of alpha thalassemia in this part of the world.
α地中海贫血是全球最常见的单基因疾病之一。α链变异与地中海贫血突变的组合可能导致临床和血液学特征，这对遗传咨询很重要。本研究首次描述了伊朗北部一个家族中一种罕见的α1-珠蛋白无义突变，密码子99（：c.298A>T），与一种α链变异体Hb枫丹白露（：c.64G>C）相关。该病例是一名患有低色素小细胞贫血的23岁男性，他要求进行产前诊断。α1-珠蛋白突变和Hb枫丹白露的组合可导致地中海贫血的临床和血液学特征。这种组合也凸显了世界这一地区α地中海贫血的重要异质性。
