Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Guangxi Key Laboratory of Thalassemia Research, Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Hemoglobin. 2020 Nov;44(6):402-405. doi: 10.1080/03630269.2020.1843482. Epub 2020 Nov 16.
β-Thalassemia (β-thal) is a hereditary blood disorder characterized by the reduced or absent synthesis of β-globin chains. Here, we report a case of severe thalassemia with compound heterozygosity for a novel deletion mutation at codon 104 (-A) (: c.313delA) and codons 41/42 (-CTTT) (: c.126_129delCTTT) on the β-globin gene (), and a coinheritance of the -α (leftward) deletion on the α-globin gene cluster. The proband was a 12-year-old boy, and four other family members were involved in this study. This novel frameshift mutation caused classical β-thal trait in the heterozygote and a transfusion-dependent form of β-thal major (β-TM) in compound heterozygosity with other β mutations.
β-地中海贫血症（β-thal）是一种遗传性血液疾病，其特征是β-珠蛋白链的合成减少或缺失。在这里，我们报告了一例严重的地中海贫血症病例，该病例存在β-珠蛋白基因上的新型移码突变（-A）（：c.313delA）和密码子 41/42（-CTTT）（：c.126_129delCTTT）的复合杂合性，以及在α-珠蛋白基因簇上的-α（左向）缺失的共同遗传。该先证者是一名 12 岁男孩，其他四名家庭成员参与了这项研究。这种新型移码突变导致杂合子中出现经典的β-地中海贫血特征，以及与其他β 突变复合杂合时表现为输血依赖型β-地中海贫血重型（β-TM）。
