Thalassemia is a common monogenic disease in southwestern China, especially in Guizhou province. In this study, 18 309 neonates were examined for thalassemia. The thalassemia carrier rate was 12.90%, which is associated with geographical regions, with carrier frequencies significantly differing between regions (p < 0.0001). The carrier rates for α‐thalassemia and β‐thalassemia were 8.91% and 3.36%, respectively. There are 22 genotypes identified among 1632 α‐thalassemia cases, and 18 genotypes detected among 615 β‐thalassemia cases. The birthrates of individuals with intermediate thalassemia and β‐thalassemia major were 0.153% and 0.055%, respectively. Methodologically, NGS‐Gap‐PCR is superior to traditional detection methods, with 65 more cases detected by NGS‐Gap‐PCR. Since thalassemia‐rich genotypes were highly prevalent in this region, early detection of thalassemia carriers would be meaningful for genetic counseling and prevention/treatment of thalassemia. NGS‐Gap‐PCR provides a powerful tool for neonate genetic testing and clinical diagnosis of thalassemia, especially in high‐prevalence regions.

中文翻译：

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早期基因筛查发现贵州省 18 309 名新生儿地中海贫血患病率较高

地中海贫血是我国西南地区特别是贵州省常见的单基因疾病。在这项研究中，18 309 名新生儿接受了地中海贫血检查。地中海贫血携带率为12.90%，与地理区域相关，区域间携带频率差异显着（p < 0.0001)。α-地中海贫血和β-地中海贫血的携带率分别为8.91%和3.36%。在 1632 例α-地中海贫血病例中鉴定出 22 种基因型，在 615 例β-地中海贫血病例中检测到 18 种基因型。中度地中海贫血和重型β地中海贫血个体的出生率分别为0.153%和0.055%。在方法学上，NGS-Gap-PCR 优于传统检测方法，NGS-Gap-PCR 检测到的病例增加了 65 例。由于该地区富含地中海贫血的基因型非常普遍，因此早期发现地中海贫血携带者对于地中海贫血的遗传咨询和预防/治疗具有重要意义。NGS-Gap-PCR 为地中海贫血的新生儿基因检测和临床诊断提供了强大的工具，特别是在高流行地区。