■葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是中国南方常见的X连锁遗传性疾病。然而,G6PD缺乏症的发生率和最常见的G6PD基因变异的频率差异很大。这项研究的目的是调查患病率,基因型,福建省新生儿G6PD缺乏症的表型特征,中国东南部。
这项回顾性队列研究根据2010年1月至2021年12月期间福建省G6PD缺乏症的新生儿筛查计划,纳入了2,789,002名新生儿(1,521,431名男性和1,267,571名女性)。
■在2,789,002名新生儿中,诊断26,437例(男性22,939例,女性3,498例),福建省G6PD缺乏症患病率估计为0.95%。男性的患病率(1.51%)明显高于女性(0.28%)(p<0.00001)。在3198例G6PD缺乏症患者中,3,092例(2,145名男性和947名女性)被检测到具有G6PD基因变体。确定的前六种流行基因型占总数的90.84%(2095/3,198),包括c.1376G>T(44.93%),c.1388G>A(18.42%),c.1024C>T(9.32%),c.95A>G(8.69%),c.392G>T(5.25%),和c.871G>A(4.22%)。基因型的频率与c.1388G>A,c.1024C>T,福建省男性c.871G>A高于女性,而c.1376G>T的基因型频率较低。此外,当比较前六种流行基因型的酶活性时,男性半合子和女性杂合子的基因型之间的酶活性存在显着差异。根据世界卫生组织(WHO)提出的G6PD变异新分类,与c.1376G>T的变体,c.95A>G,c.871G>A被认定为A类,而c.392G>T,c.1388G>A,c.1024C>T被认为是B类
■据我们所知,本研究首次系统地描述了福建省新生儿G6PD缺乏症的流行病学特征,中国,包括筛查率,发病率,和变异光谱。此外,我们阐明了具有特定突变的酶活性分布与其WHO分类模式之间的关系.我们的结果可以提供筛查策略,诊断,以及该地区G6PD缺乏症的遗传咨询。
UNASSIGNED: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked hereditary disorder in southern China. However, the incidence rate of G6PD deficiency and the frequency of the most common G6PD gene variants vary widely. The purpose of this study was to investigate the prevalence, genotype, and phenotypic features of G6PD deficiency in neonates in Fujian province, southeastern China.
UNASSIGNED: This retrospective cohort study enrolled 2,789,002 newborns (1,521,431 males and 1,267,571 females) based on the newborn screening program for G6PD deficiency in Fujian Province between January 2010 and December 2021.
UNASSIGNED: Of the 2,789,002 newborns enrolled, 26,437 cases were diagnosed (22,939 males and 3,498 females), and the estimated prevalence of G6PD deficiency in Fujian province was 0.95%. The prevalence was significantly higher among males (1.51%) than in females (0.28%) (p < 0.00001). Among the 3,198 patients with G6PD deficiency, 3,092 cases (2,145 males and 947 females) were detected to have G6PD gene variants. The top six prevalent genotypes identified represented 90.84% (2095/3,198) of the total and included c.1376G > T (44.93%), c.1388G > A (18.42%), c.1024C > T (9.32%), c.95A > G (8.69%), c.392G > T (5.25%), and c.871G > A (4.22%). The frequency of genotypes with c.1388G > A, c.1024C > T, and c.871G > A was higher in males in the Fujian province than in females, while the frequency of genotypes with c.1376G > T was lower. Furthermore, when comparing the enzyme activities of the top six prevalent genotypes, there were significant differences in the enzyme activities among the genotypes of male hemizygotes and female heterozygotes. According to the new classification of G6PD variants proposed by the World Health Organization (WHO), the variants with c.1376G > T, c.95A > G, and c.871G > A were recognized as Class A, while the c.392G > T, c.1388G > A, and c.1024C > T were recognized as Class B.
UNASSIGNED: To the best of our knowledge, this study is the first to systematically describe the overview of epidemiological characteristics of newborn G6PD deficiency in Fujian province, China, including the screening rate, incidence rate, and variant spectrum. Additionally, we elucidated the relationship between the distribution of enzyme activity with specific mutations and their WHO classification patterns. Our results could provide strategies for screening, diagnosis, and genetic counseling of G6PD deficiency in this area.