[Gene Mutation Types of Thalassemia in Chongzuo Childbearing-age Population of Guangxi Zhuang Autonomous Region of China].

OBJECTIVE: To investigate the gene mutation and genotype distribution of thalassemia in the population of childbearing age in Chongzuo area of Guangxi. METHODS: Six α-thalassemia and 17 ß-thalassemia gene mutations common in Chinese were detected by gap-polymerase chain reaction (gap-PCR) combined with agarose gel eletrophoresis and reserve dot bolt hybridization in 29 266 cases of child-bearing age suspected of thalassemia. RESULTS: A total of 19 128 (65.36%) cases were identified with thalassemia. The detection rate of α-thalassemia, ß-thalassemia and α-combining ß-thalassemia was 45.25% (13 242/29 266), 15.47% (4 526/29 266) and 4.65% (1 360/29 266), respectively. A total carrying rate of 8 kinds of α-thalassemia gene mutations was 26.74% (15 649/58 532), including 12.51% for --SEA, followed by 5.70% for -α3.7, and 0.24% for --Thai. Among 32 α-thalassemia genotypes, the most common five were --SEA/αα, -α3.7/αα, αCSα/αα, -α4.2/αα and αWSα/αα, accounting for 47.27%, 18.31%, 8.56%, 8.52% and 7.91%, respectively, as well as 0.97% for --Thai/αα. A total carrying rate of 13 kinds of ß-thalassemia gene mutations was 10.07% (5 897/58 532), including 3.63% for CD41-42, followed by 2.55% for CD17, and 0.003% for -50 (G>A). Among 17 ß-thalassemia genotypes, the most common six were CD41-42/N, CD17/N, CD71-72/N, CD26/N, 28/N and IVSI-1/N, accounting for 36.15%, 25.81%, 9.43%, 8.18%, 8.09% and 7.75%. The homozygous genotype CD26/CD26 [hemoglobin (Hb): 121 g/L] and -28/-28 (Hb: 56 g/L) were respectively detected in one case, and double heterozygous genotype were detected in 5 cases, including 3 cases of CD41-42/CD26 (Hb: 41 g/L, 51 g/L, 63 g/L, respectively), 1 case of -28/IVSI-1 (Hb: 53 g/L), and 1 case of CD71-72/CD26 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining ß-thalassemia genotypes, the most common were --SEA/αα, -α3.7/αα combining CD41-42/N and --SEA/αα combining CD17/N, accounting for 12.13%, 9.63% and 9.26%, respectively. In addition, 1 case of --SEA/-α3.7 combining -28/IVSI-1 (Hb: 83 g/L) and 1 case of -α3.7/αα combining CD41-42/ CD41-42 (Hb: 110 g/L) were detected without history of blood transfusion, while 1 case of αWSα/αα combining CD41-42/CD17 (Hb: 79 g/L) and 1 case of --SEA/αα combining CD17/-28 (Hb: 46 g/L) were detected with history. CONCLUSIONS: The detection rate of thalassemia genes is high and the mutations are diverse in the population of childbearing age in Chongzuo area of Guangxi. The common deletion genotype is --SEA/αα in α-thalassemia and CD41-42/N in ß-thalassemia, and deletion genotype --Thai is not rare. There is a certain incidence of intermediate and severe ß-thalassemia, and most patients require transfusion therapy. The results are beneficial for genetic consultation and intervention of thalassemia.

[Analysis of HKαα Genotype and Hematological Characteristics in South Guangxi].

OBJECTIVE: To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region. METHODS: Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed. RESULTS: A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα/--SEA, ßN/ ßN, HKαα/αα, ß-28/ ßN, HKαα/αα, ß-50/ ßN, HKαα/αα, ßCD17/ ßN, HKαα/αα, ßCD27/28/ß N, HKαα/αα, ßCD41-42/ ßN, HKαα/αα, ßCD71-72/ ßN, and HKαα/αα, ßN/ ßN). Except for most cases with HKαα/αα, ßN/ ßN genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia. CONCLUSION: HKαα carrier is often misdiagnosed as -α3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.

Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors.

Background: Birth defects (BDs) are associated with many potential risk factors, and its causes are complex. Objectives: This study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs. Methods: BDs 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. Results: Between 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. Conclusion: A 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.

Molecular characterisation of Hb Akron [ß52 (D3) Asp→Val] combined with thalassaemia in a Chinese family.

AIMS: Hb Akron (HBB:c.158A>T) is a rare ß-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. METHODS: Haematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family. RESULTS: Hb Akron in various combinations with ß0-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 ß0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or ß0-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. CONCLUSIONS: We 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.

Characteristics of amino acid metabolism in preterm infants in Guangxi, China. / å¹¿è¥¿åœ°åŒºæ—©äº§å„¿æ°¨åŸºé ¸ä»£è°¢ç‰¹ç‚¹ç ”ç©¶.

OBJECTIVES: To study the characteristics of amino acid metabolism in preterm infants in Guangxi, China. METHODS: A retrospective analysis was performed on the medical data of 30 757 neonates who underwent the screening for inherited metabolic diseases and had negative results in Guangxi Neonatal Disease Screening Center from 2018 to 2020. Among these neonates, there were 28 611 normal full-term infants (control group) and 2 146 preterm infants (preterm birth group). According to gestational age, the preterm infants were further divided into four groups: very preterm (n=209), moderately preterm (n=307), and late preterm group (n=1 630). According to birth weight, they were divided into three groups: very low birth weight group (n=161), low birth weight group (n=1 085), and normal birth weight group (n=900). According to blood collection time, they were divided into three groups: 3-7 days group (n=1 664), 8-14 days group (n=314) and 15-28 days group (n=168). Tandem mass spectrometry was performed to measure the levels of 11 amino acids in dried blood spots, which were then compared between groups. RESULTS: After adjustment for confounding factors, there were significant differences in the levels of 11 amino acids among different gestational age groups (P<0.05), and significant differences were observed in the levels of the 11 amino acids between the control group and the various preterm groups (except for citrulline and methionine in the late preterm group). There were significant differences in the levels of 11 amino acids among different birth weight groups (P<0.05). Except for ornithine, there were significant differences in the levels of other amino acids among the different blood collection time groups (P<0.05). CONCLUSIONS: Gestational age, birth weight and blood collection time all affect amino acid metabolism in preterm infants in Guangxi, China. This provides a basis for the laboratory to establish the reference standard and clinical interpretation of blood amino acid levels in preterm infants, and to improve the nutritional metabolism of preterm infants.

The Efficacy of Cognitive Training for Elderly Chinese Individuals with Mild Cognitive Impairment.

The age of the population is shifting toward the elderly range, which may lead to an increased risk of mild cognitive impairment (MCI). The aims of this study are to evaluate the cognitive function in elderly people using the Montreal Cognitive Assessment (MoCA), to identify the relationship between cognitive function and different characteristics, and to evaluate the efficacy of the intervention after six months of cognitive training. In this study, we included 2886 subjects aged ≧60 years in the baseline survey, and 140 subjects with MCI who participated in the baseline survey were randomly divided into an intervention group (N = 70) and a control group (N = 70). The control group was not provided any intervention measures, and the intervention group was administered cognitive training. The education level, monthly income, sleep time, exercise time, reading times, and time spent engaging in community activities and performing housework were positively correlated with MoCA scores, but age was negatively correlated with MoCA scores. The total MoCA score of the intervention group increased from 19.77 ± 2.24 points to 21.09 ± 2.20 points after six months of cognitive training, but the score of the control group decreased from 20.41 ± 2.10 points to 19.17 ± 2.57 points. The two-way repeated-measures ANOVA revealed a very significant effect of the interaction between time and cognitive training on the total MoCA score. Seventeen participants in the intervention group improved to normal levels, and no participants progressed to dementia after six months of cognitive training. Thus, the efficacy of the intervention was statistically significant. Our study concludes that older age is associated with a cognitive decline. Factors that are more likely to protect against cognitive decline included a higher education level and monthly income, sufficient sleep time, regular physical exercise and reading, frequently engaging in community activities, and continuing to perform housework. Moreover, the cognitive training intervention is effective and may help to decrease the deterioration of cognitive function in patients with MCI, and the interaction between intervention time and cognitive training significantly improves cognitive function.

Spatial distribution of HIV, HCV, and co-infections among drug users in the southwestern border areas of China (2004-2014): a cohort study of a national methadone maintenance treatment program.

BACKGROUND: A methadone maintenance treatment (MMT) program to curb the dual epidemics of HIV/AIDS and drug use has been administered by China since 2004. Little is known regarding the geographic heterogeneity of HIV and hepatitis C virus (HCV) infections among MMT clients in the resource-constrained context of Chinese provinces, such as Guangxi. This study aimed to characterize the geographic distribution patterns and co-clustered epidemic factors of HIV, HCV and co-infections at the county level among drug users receiving MMT in Guangxi Zhuang Autonomous Region, located in the southwestern border area of China. METHODS: Baseline data on drug users' demographic, behavioral and biological characteristics in the MMT clinics of Guangxi Zhuang Autonomous Region during the period of March 2004 to December 2014 were obtained from national HIV databases. Residential addresses were entered into a geographical information system (GIS) program and analyzed for spatial clustering of HIV, HCV and co-infections among MMT clients at the county level using geographic autocorrelation analysis and geographic scan statistics. RESULTS: A total of 31,015 MMT clients were analyzed, and the prevalence of HIV, HCV and co-infections were 13.05%, 72.51% and 11.96% respectively. Both the geographic autocorrelation analysis and geographic scan statistics showed that HIV, HCV and co-infections in Guangxi Zhuang Autonomous Region exhibited significant geographic clustering at the county level, and the Moran's I values were 0.33, 0.41 and 0.30, respectively (P < 0.05). The most significant high-risk overlapping clusters for these infections were restricted to within a 10.95 km2 radius of each of the 13 locations where P county was the cluster center. These infections also co-clustered with certain characteristics, such as being unmarried, having a primary level of education or below, having used drugs for more than 10 years, and receptive sharing of syringes with others. The high-risk clusters for these characteristics were more likely to reside in the areas surrounding P county. CONCLUSIONS: HIV, HCV and co-infections among MMT clients in Guangxi Zhuang Autonomous Region all presented substantial geographic heterogeneity at the county level with a number of overlapping significant clusters. The areas surrounding P county were effective in enrolling high-risk clients in their MMT programs which, in turn, might enable people who inject drugs to inject less, share fewer syringes, and receive referrals for HIV or HCV treatment in a timely manner.