[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.

Investigation on Atypical Pathogens related with Community Acquired Pneumonia and the Factors Associated with Mycoplasma Pneumoniae Infection in Jiangsu, China.

BACKGROUND: Community acquired pneumonia remains a leading infectious cause of hospitalization with substantial morbidity and mortality in China. At present, the role of atypical pathogens in CAP arouses peoples' concern. Previous studies indicated that MP was the dominant pathogen of CAP, but the associated factors of MP infection were rarely reported. METHODS: We retrospectively investigated the distribution of atypical pathogens related with CAP and compared their differences among various populations. Furthermore, we accessed the associated factors of MP infection in various population. RESULTS: A total of 3,675 patients were enrolled and divided into three groups. One thousand and eighty-nine subjects (29.6%) were infected with at least one atypical pathogen. MP was the most predominant pathogen in these CAP patients. Our study found that infection rates of the atypical pathogens were significantly different among three groups. Our results also revealed, in a pediatric group, as the temperature increased, so did the infection rate of MP, while it was the opposite in adult and elderly groups. Furthermore, in preschool and school-age children, high temperature, female, PIVs, ADV, and INFB infection were independent risk factors for MP infection, INFA infection was a protection factor for MP infection. However, in adult and elderly groups, the associated factors might be different. CONCLUSIONS: The infection of atypical pathogens related with CAP is quite serious, and MP infection plays a key role in CAP. Besides, the infection rates of the atypical pathogens are different in various populations, as are the associated factors for MP infection.

Comparison of a Newly Developed HPV Genotyping Assay (Mojin HPV Kit) with Cobas 4800 HPV Test for Detection of High-Risk HPV in Specimens Collected in SurePath Solution.

BACKGROUND: Human papillomavirus (HPV) detection based on cervical cytology specimens is useful for cervical cancer screening. The aim of this study was to compare Mojin HPV kit (a newly developed HPV genotyping assay) with the Cobas 4800 HPV test in detecting high-risk (HR) HPV. METHODS: A total of 347 cervical exfoliated cell specimens were tested using the Mojin HPV kit and Cobas 4800 HPV test. When the results from the two tests were inconsistent, gene sequencing was performed for correction. RESULTS: For HR-HPV, the results of the two assays agreed by 96.3% [Kappa = 0.911; 95% confidence interval (CI): 0.863 - 0.958)]. The positive and negative coincidence rates between the two tests were 96.0% (95% CI: 92.7% - 98.0%) and 97.0% (95% CI: 91.5% - 99.4%), respectively. Of the 13 samples with discordant results, 3 samples were false positive and 10 samples were true negative for Mojin HPV test, according to the identification by sequencing. For HPV16 genotyping, the total coincidence rate between the 2 tests was 100% (Kappa = 1.000), and 99.7% (Kappa = 0.973; 95% CI: 0.905 - 1.000) for HPV18. CONCLUSIONS: Mojin HPV kit may be as effective as Cobas 4800 HPV assay in detecting the total HR-HPV, especially HPV16 or HPV18.

Correlation between plasma ferritin level and gestational diabetes mellitus and its impact on fetal macrosomia.

AIMS/INTRODUCTION: To explore the relationship between plasma iron levels and gestational diabetes mellitus, as well as its impact on macrosomia. MATERIALS AND METHODS: We retrospectively compared ferritin level and other characteristics between pregnant women with gestational diabetes mellitus (GDM) and pregnant women without GDM. The correlation between the levels of plasma ferritin, glucose and hemoglobin was explored. Meanwhile, we assessed the risk factors of macrosomia. Furthermore, we explored the relationship between ferritin level and the incidence of macrosomia. RESULTS: A total of 793 pregnant women were enrolled in the present study, of which 92 pregnant women had GDM and 701 pregnant women were healthy. Meanwhile, 51 pregnant women gave birth to infants with macrosomia and another 742 women had normal infants. Compared with non-GDM women, pregnant women with GDM were older, with higher pre-pregnancy body mass index, plasma ferritin, fasting plasma glucose, 1-h postprandial glucose, 2-h plasma glucose and hemoglobin. In addition, our results showed a significant positive correlation between the levels of ferritin and fasting plasma glucose when ferritin levels were >70 ng/mL. Our results also showed that pre-pregnancy overweight or obesity, a high concentration of ferritin, as well as abnormal levels of fasting plasma glucose, 1-h plasma glucose and 2 h plasma glucose were risk factors for macrosomia. Furthermore, as the level of ferritin increased, so did the incidence of macrosomia. CONCLUSIONS: The current study provides evidence that pregnant women with high levels of ferritin might be prone to GDM. In addition, a high level of ferritin might be an independent risk factor for macrosomia. Therefore, the negative effect of iron supplementation in non-anemic pregnant women might be noteworthy.

[Epidemiological investigation and genotype of thalassemia on middle school students in Chongzuo, Guangxi].

OBJECTIVE: To investigate the carrier ratio and the genotype of thalassemia among students of secondary school in Chongzuo, Guangxi. METHODS: From June 10-20, 2008 among 7 regions of Chongzuo, 1 secondary school was randomly chosen from each region, and the number of student volunteers was determined by 0.5 per thousand proportion of the local population size. 1097 students were screened, including 515 boys and 582 girls of 12-16 year olds. Among them, 968 cases were Zhuang (438 boys and 530 girls) 128 cases were Han (76 boys and 52 girls) and one case was Yao nationalities (boy). Analysis of blood cells was detected by Cell Dyn 1700 automatic hemocyte analysator while hemoglobin F (HbF) and hemoglobin A2 (HbA2) were detected by hemoglobin autoanalyse variant. Among those with HbA > or = 4% that belonged to beta-thalassemia before alpha and beta-thalassemia gene were analyzed to identify the genotypes. If HbA2 was <4% but MCV< or = 80 fl, alpha-thalassemia gene was analyzed. RESULTS: Among 1097 cases, 218 were alpha-thalassemia (19.87%), 50 were beta-thalassemia (4.56%) and 13 were combination of alpha beta-thalassemia (1.19%). The overall detected ratio was 25.62%. 133 cases with thalassemia were boys (25.83%) and 148 were girls (25.43%) with no significant difference (P>0.05). 255 cases of thalassemia were Zhuang (26.34%), and 25 were Han nationality (19.52%). The detected ratio among Zhuang nationality was higher than in Han nationality and with significant difference statistically (P<0.01). 3 kinds of deletion (-alpha(3.7)/, -alpha(4.2)/, --(SEA)/) and another 3 kinds of non-deletion (alpha alpha(CS)/, alpha alpha(WS)/, alpha alpha(QS/) alpha-thalassemia genotype were identified, with a higher rate of alpha alpha(WS)/. Among the beta-thalassemia genotype, CD41-42 appeared the most common genotype. MCV of thalassemia was lower than in the controls, with significant difference (P<0.01). 78-90 fl of alpha-thalassemia was detected from the MCV specimen. If taken MCV<79 fl as the positive phenotype of thalassemia, 32 cases were misdiagnosed. The rate of missed diagnosed cases was 2.97%. CONCLUSION: Rate of thalassemia carrier among students of secondary school in Chongzuo, Guangxi was considered to be high, especially those belonged to Zhuang nationality were higher than the Hans. The carrier rate of alpha alpha(WS)/ was higher, with CD41-42 the most common genotype.