Guangdong Hybribio Limited Corporation, Guangzhou, People's Republic of China.
Department of Eugenics, Hainan Provincial Public Service Center of Prenatal and Postnatal Care, Haikou, People's Republic of China.
Hematology. 2024 Dec;29(1):2399361. doi: 10.1080/16078454.2024.2399361. Epub 2024 Sep 12.
The α-globin fusion gene between the and genes, is clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combined with α -thalassemia (α -thal). In this study, we evaluate the red blood cell parameters of α-thalassemia fusion gene in southern China.
Study samples suspected of α-thalassemia fusion gene were collected and confirmed by PCR-sequencing from one medical lab center in southern China. Their genotypes and phenotypes were analyzed.
A total of 266 cases of α-thalassemia fusion gene were confirmed in our lab from 2017 to 2023, most of them were from Hainan province (169 cases) and Huadu district of Guangzhou (21 cases), the nationality of 143 cases from Hainan was identified, with 71.3% (102/143) being from the Li minority. The Hb, MCV, MCH for αα/(αα) in adult males were 143.5±11.83g/L, 81.51±4.39 fl, and 26.26±1.29 pg, respectively; and in females, they were 126.69±12.89 g/L, 80.10±4.05 fl, 25.8±2.04 pg, respectively. All 12 cases (αα) / -- showed anemia with decreased Hb, MCV and MCH.
The carriers of α-globin fusion gene heterozygotes are clinically silent and exhibit an α phenotype. Individuals with (αα)/ show apparent anemia. This α-globin fusion gene is relatively common in southern China, specifically among the Li minority of Hainan province. Therefore, it should be taken into account for genetic counseling purposes.
位于 和 基因之间的α-珠蛋白融合基因在β-地中海贫血筛查中具有重要的临床意义，因为当与α-地中海贫血（α-地贫）结合时，该融合基因可导致严重的血红蛋白（Hb）H 病。本研究评估了中国南方α-地中海贫血融合基因的红细胞参数。
收集并经中国南方某医学检验中心 PCR 测序证实疑似α-地中海贫血融合基因的研究样本，分析其基因型和表型。
本实验室 2017 年至 2023 年共确诊 266 例α-地中海贫血融合基因，其中大部分来自海南省（169 例）和广州市花都区（21 例），143 例来自海南省的民族鉴定，其中黎族占 71.3%（102/143）。成年男性αα/（αα）的 Hb、MCV、MCH 分别为 143.5±11.83g/L、81.51±4.39fl、26.26±1.29pg，女性分别为 126.69±12.89g/L、80.10±4.05fl、25.8±2.04pg。所有 12 例（αα）/--均表现为贫血，Hb、MCV 和 MCH 降低。
α-珠蛋白融合基因杂合子携带者临床表现为隐匿型，表现为α 表型。（αα）/ 个体表现为明显贫血。这种α-珠蛋白融合基因在中国南方较为常见，尤其是海南省的黎族。因此，在进行遗传咨询时应考虑到这一点。
