Birth defects (BD) is a big public health issue in Guangxi Zhuang Autonomous Region of China. The overall prevalence of BD in Guangxi is about 1% and higher than most other provinces of China. However, the geographical clustering variations in BD of Guangxi has not been described. Therefore, the aim of this study was to explore and detect the spatial clustering patterns of BD prevalence across a well-defined geographic space. The data were obtained from Guangxi birth defects monitoring network (GXBDMN) from 2016 to 2020, which collected socio-demographic and clinical information from perinatal infants between 28 weeks of gestation and 7 days postnatal. The spatial autocorrelation analysis and hot spot analysis will be used to explore the geographical clustering of BD prevalence in 70 counties and 41 districts of Guangxi in this study. A total of 44,418 perinatal infants were born with BD from 2016 to 2020. The overall prevalence of BD was 122.47/10,000 [95% confidence interval (CI): 121.34-123.60/10,000]. The local indicators of spatial association (LISA) statistic and Gi* statistic showed that the spatial clustering patterns of BD prevalence changed over time, and the largest High-High clustering area and hot spot area were both identified in the city of Nanning. Therefore, the spatial clustering patterns of BD prevalence in Guangxi is very significant. Spatial cluster analysis can provide reliable and accurate spatial distribution patterns in BD control and prevention.

AimsHb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia.MethodsHaematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family.ResultsHb Akron in various combinations with β0-thalassaemia and α0-thalassaemia were identified and characterised. Simple heterozygote for Hb Akron is asymptomatic, while the compound heterozygotes of Hb Akron associated with the β0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or β0-thalassaemia mutation seen in isolation. The specific peak of Hb Akron appears at Zone D (195–225 s) in the state of heterozygote and compound heterozygote on haemoglobin capillary electrophoresis device, and the reduction of Hb Akron level in heterozygotes is proportional to the degree of α-globin gene deficiency.ConclusionsWe have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia.

BackgroundBirth defects (BDs) are associated with many potential risk factors, and its causes are complex.ObjectivesThis study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs.MethodsBDs data of perinatal infants (PIs) were obtained from the Guangxi birth defects monitoring network between 2016 and 2020. Univariate Poisson regression was used to calculate the prevalence-rate ratios (PRR) to explore the changing trends of BDs prevalence by year and the correlation between the regarding of characteristics of BDs (including infant gender, maternal age, and quarter) and BDs. Clinical characteristics of PIs with BDs and general characteristics of their mothers were documented, and Spearman correlation analysis was used to explore the potential associated risk factors of BDs.ResultsBetween 2016 and 2020, 44,146 PIs with BDs were monitored, with an overall BDs prevalence of 121.71 (95% CI: 120.58–122.84) per 10,000 PIs, showing a significant increase trend (PRR = 1.116, 95% CI: 1.108–1.123), especially the prevalence of congenital heart defects (CHDs) that most significantly increased (PRR = 1.300, 95% CI: 1.283–1.318). The 10 most common BDs were CHDs, polydactyly, congenital talipes equinovarus, other malformation of external ear, syndactyly, hypospadias, cleft lip with cleft palate, cleft lip, hemoglobin Bart's hydrops fetalis syndrome (BHFS), and congenital atresia of the rectum and anus. BDs were positively correlated with pregnant women's age (R = 0.732, P < 0.01) and education level (R = 0.586, P < 0.05) and having pre-gestational diabetes mellitus (PGDM)/gestational diabetes mellitus (GDM) (R = 0.711, P < 0.01), while when the pregnant women had a family history of a dead fetus (R = −0.536, P < 0.05) and a birth of a fetus with BDs (R = −0.528, P < 0.05) were negatively correlated with BDs.ConclusionA significant increase in the prevalence of BDs was detected between 2016 and 2020 in Guangxi, especially the prevalence of CHDs that most significantly increased. Older maternal age, higher maternal education level, and having PGDM before pregnancy or GDM in early pregnancy were the risk factors for BDs.