Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Hemoglobin. 2020 Nov;44(6):423-426. doi: 10.1080/03630269.2020.1831529. Epub 2020 Oct 14.
There are four copy numbers of α-globin genes (16p13.3) in the human genome and the number of defective α-globin genes dictates the severity of α-thalassemia (α-thal). Mutations that occur in the 3' untranslated region (3'UTR), and especially at the polyadenylation (polyA) sites, affect the translation, stability and export of mRNA. A patient with hypochromic microcytic anemia was referred to the Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran by the health network. Molecular analysis of genomic DNA for the evaluation of mutations on the α- and β-globin genes was performed. Direct sequencing of the hemoglobin (Hb) subunit α2 () gene revealed a two nucleotide deletion between +816 and +817 in the 3'UTR, located at the polyA site, which seems to be a novel pathogenic variant. This novel variant expands the genetic spectrum of α-thal in the 3'UTR of the gene.
人类基因组中有四个α-珠蛋白基因（16p13.3）拷贝数，α-珠蛋白基因缺陷的数量决定了α-地中海贫血（α-thal）的严重程度。发生在 3'非翻译区（3'UTR）的突变，特别是在多聚腺苷酸化（polyA）位点，会影响 mRNA 的翻译、稳定性和输出。一名低色素小细胞性贫血患者通过伊朗德黑兰的 Kariminejad-Najmabadi 病理学和遗传学中心的健康网络被转介到这里。对α-和β-珠蛋白基因的突变进行了基因组 DNA 的分子分析。对血红蛋白（Hb）亚基α2（）基因的直接测序显示，在 3'UTR 中，polyA 位点处的+816 和+817 之间有两个核苷酸缺失，这似乎是一种新的致病变体。这种新的变体扩展了 3'UTR 中基因的遗传谱。
