Ye Chao, Qing Jilin, Wei Yan, Zhao Yilian, Zhou Xiaoxing, Xie Mengru, Chen Zhizhong
School of Clinical Medicine, Guilin Medical University, Guilin, Guangxi, China.
Center for Reproductive Medicine and Genetics, The People's Hospital of Guangxi Zhuang Autonomous Region and Guangxi Academy of Medical Sciences, Nanning, Guangxi, China.
Hemoglobin. 2025 Jul 20:1-6. doi: 10.1080/03630269.2025.2534705.
: c.70G > A (Hb Chad) and : c.84G > T (Hb Hekinan II) are extremely rare α-globin chain variants, while : c.-78A > G is a relatively common mutation in β-thalassemia. This study aims to identify potential hemoglobin variants in a 12-year-old Chinese boy (proband) and evaluate the presence of thalassemia trait in his parents. We used an automated blood cell analyzer to obtain hematological data, capillary zone electrophoresis to analyze hemoglobin, and sequencing of α-globin and β-globin genes for molecular characterization. The proband exhibited typical thalassemia traits, with hemoglobin electrophoresis suggesting a complex α- and β-chain hemoglobinopathy. Genetic testing revealed that the proband was a double heterozygote for : c.70G > A (Hb Chad) and : c.-78A > G, while the proband's mother was a compound heterozygote for : c.70G > A (Hb Chad) and : c.84G > T (Hb Hekinan II). This study reports for the first time two novel cases of hemoglobinopathy in a Chinese family, involving : c.70G > A (Hb Chad)/: c.-78A > G and : c.70G > A (Hb Chad)/: c.84G > T (Hb Hekinan II).
c.70G＞A（血红蛋白乍得）和c.84G＞T（血红蛋白赫基南II）是极其罕见的α-珠蛋白链变异体，而c.-78A＞G是β地中海贫血中相对常见的突变。本研究旨在鉴定一名12岁中国男孩（先证者）潜在的血红蛋白变异体，并评估其父母中地中海贫血特征的存在情况。我们使用自动血细胞分析仪获取血液学数据，毛细管区带电泳分析血红蛋白，并对α-珠蛋白和β-珠蛋白基因进行测序以进行分子特征分析。先证者表现出典型的地中海贫血特征，血红蛋白电泳提示存在复杂的α链和β链血红蛋白病。基因检测显示先证者是c.70G＞A（血红蛋白乍得）和c.-78A＞G的双重杂合子，而先证者的母亲是c.70G＞A（血红蛋白乍得）和c.84G＞T（血红蛋白赫基南II）的复合杂合子。本研究首次报道了一个中国家庭中两例新的血红蛋白病病例，涉及c.70G＞A（血红蛋白乍得）/c.-78A＞G和c.70G＞A（血红蛋白乍得）/c.84G＞T（血红蛋白赫基南II）。
