Accurate and up-to-date data on the frequency of haemoglobinopathies among the populations of Guangxi Zhuang Autonomous Region, where haemoglobinopathies are most endemic in China, are required. In our study, a total of 5789 samples obtained from members of the Han, Zhang, and Yao ethnic groups in six geographical areas of Guangxi Province were analysed systematically in terms of both haematological and molecular parameters. The results presented that the total heterozygote frequency of thalassaemias and other haemoglobinopathies was 24.51%, of which 17.55% was due to alpha-thalassaemia, 6.43% to beta-thalassaemia, 0.38% to structural haemoglobin variants, and 0.16% to delta-thalassaemia. The mutational spectrum among the local population for each type of disorder was described, including the first report on the true prevalence of three silent alpha thalassemia defects, -alpha(3.7)/(4.78%), -alpha(4.2)/(1.61%) and Hb Westmead (alpha(WS)alpha/) (1.57%) and of delta-thalassemia resulting from five novel and two rare mutations never before identified in Chinese individuals. Comparison of the frequencies of alpha-globin mutations among the ethnic groups showed that there was a statistically significant difference between the Han (15.71%) and Zhuang (20.12%), and between the Han (15.71%) and Yao (20.84%) ethnic groups. In addition, we have performed the first extensive study of haematological parameters of the Hb Westmead mutation using a group of Chinese subjects with compound heterozygosity for this variant and an alpha-thalassaemia deletion. The knowledge gained in this study will enable us to estimate the health burden in this high-risk population and to elucidate the various genetic alterations that underlie haemoglobinopathies.

Background Although maternal deaths are rare in developed regions, the morbidity associated with severe postpartum hemorrhage (SPPH) remains a major problem. To determine the prevalence and risk factors of SPPH, we analyzed data of women who gave birth in Guangzhou Medical Centre for Critical Pregnant Women, which received a large quantity of critically ill obstetric patients who were transferred from other hospitals in Southern China. Methods In this study, we conducted a retrospective case-control study to determine the prevalence and risk factors for SPPH among a cohort of women who gave birth after 28 weeks of gestation between January 2015 and August 2019. SPPH was defined as an estimated blood loss ≥1000 mL and total blood transfusion≥4 units. Logistic regression analysis was used to identify independent risk factors for SPPH. Results SPPH was observed in 532 mothers (1.56%) among the total population of 34,178 mothers. Placenta-related problems (55.83%) were the major identified causes of SPPH, while uterine atony without associated retention of placental tissues accounted for 38.91%. The risk factors for SPPH were maternal age < 18 years (adjusted OR [aOR] = 11.52, 95% CI: 1.51–87.62), previous cesarean section (aOR = 2.57, 95% CI: 1.90–3.47), history of postpartum hemorrhage (aOR = 4.94, 95% CI: 2.63–9.29), conception through in vitro fertilization (aOR = 1.78, 95% CI: 1.31–2.43), pre-delivery anemia (aOR = 2.37, 95% CI: 1.88–3.00), stillbirth (aOR = 2.61, 95% CI: 1.02–6.69), prolonged labor (aOR = 5.24, 95% CI: 3.10–8.86), placenta previa (aOR = 9.75, 95% CI: 7.45–12.75), placenta abruption (aOR = 3.85, 95% CI: 1.91–7.76), placenta accrete spectrum (aOR = 8.00, 95% CI: 6.20–10.33), and macrosomia (aOR = 2.30, 95% CI: 1.38–3.83). Conclusion Maternal age < 18 years, previous cesarean section, history of PPH, conception through IVF, pre-delivery anemia, stillbirth, prolonged labor, placenta previa, placental abruption, PAS, and macrosomia were risk factors for SPPH. Extra vigilance during the antenatal and peripartum periods is needed to identify women who have risk factors and enable early intervention to prevent SPPH.

BackgroundThe clinical syndrome of thalassemia intermedia (TI) results from the β-globin genotypes in combination with factors to produce fetal haemoglobin (HbF) and/or co-inheritance of α-thalassemia. However, very little is currently known of the molecular basis of Chinese TI patients.MethodsWe systematically analyzed and characterized β-globin genotypes, α-thalassemia determinants, and known primary genetic modifiers linked to the production of HbF and the aggravation of α/β imbalance in 117 Chinese TI patients. Genotype-phenotype correlations were analyzed based on retrospective clinical observations.ResultsA total of 117 TI patients were divided into two major groups, namely heterozygous β-thalassemia (n = 20) in which 14 were characterized as having a mild TI with the Hb levels of 68-95 g/L except for five co-inherited αααanti-3.7 triplication and one carried a dominant mutation; and β-thalassemia homozygotes or compound heterozygotes for β-thalassemia and other β-globin defects in which the β+-thalassemia mutation was the most common (49/97), hemoglobin E (HbE) variants was second (27/97), and deletional hereditary persistence of fetal hemoglobin (HPFH) or δβ-thalassemia was third (11/97). Two novel mutations, Term CD+32(A→C) and Cap+39(C→T), have been detected.ConclusionsChinese TI patients showed considerable heterogeneity, both phenotypically and genotypically. The clinical outcomes of our TI patients were mostly explained by the genotypes linked to the β- and α-globin gene cluster. However, for a group of 14 patients (13 β0/βN and 1 β+/βN) with known heterozygous mutations of β-thalassemia and three with homozygous β-thalassemia (β0/β0), the existence of other causative genetic determinants is remaining to be molecularly defined.

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BackgroundDuring the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pregnancy management and alleviate parental anxiety. Here, we present a molecular alternative method for detecting common aneuploidies.MethodsThis method is based on co-amplification of segmental duplications located on two different chromosomes using a single pair of primers. Segmental duplications have a high degree of sequence identity, but have single-nucleotide differences in some regions. These sequence differences can be quantified using melting curve analysis of dual-labeled probes to estimate the relative dosages of different chromosomes. We designed two quadruplex real-time PCR assays to detect aneuploidies of chromosomes 13, 18, 21, X and Y.ResultsWe examined 75 aneuploid DNA samples and 56 unaffected DNA control samples using these two assays and correctly identified all samples. Four cases of unbalanced translocation were also accurately detected. The observed averaged ratio for each chromosomal disorder was similar to the theoretically expected value.ConclusionsOur real-time assay is a robust, rapid, and easy to conduct technique for prenatal diagnosis of common aneuploidies, representing a competitive alternative for use in diagnostic laboratories.

Background: Although maternal deaths are rare in developed regions, the morbidity associated with severe postpartum hemorrhage remains a major problem. To provide new insight into severe postpartum hemorrhage, we analyzed data of women giving birth in Guangzhou Medical Centre for Critical Pregnant Women, which receiveda large quantity of critically ill obstetric patients from other hospitals of Southern China. Methods: In this study, we conducted a retrospective cohort by using the criteria of severe maternal morbidities, which was defined by estimation of blood loss volume and use of blood transfusion≥4 units, to determine the prevalence, risk factors and short-term complications of severe postpartum hemorrhage. Results: Severe postpartum hemorrhage was observed in 532 mothers (1.56%) among the total population of 34 178 mothers. Placental related cause (55.83%) was the major identified cause of severe postpartum hemorrhage, while uterine atony without associated retention of placental tissues accounted for 38.91%. The risk factors for severe postpartum hemorrhage were maternal age<18 years, previous cesarean section, history of postpartum hemorrhage, conception through in vitro fertilization, pre-delivery anemia, stillbirth, prolonged labor, placenta previa, placental abruption, placenta accrete spectrum and macrosomia. The prevalence rates of admission to ICU, hysterectomy, acute renal failure and sepsis were significantly higher in women with severe postpartum hemorrhage. Conclusion:The results of this study suggested that severe postpartum hemorrhagecould be adopted as an indicator to assess the quality of obstetric care because of its severity and potential lethality. Extra vigilance during the antenatal and peripartum periods is needed to identify women who have risk factors and enable early intervention to prevent severe postpartum hemorrhage. It’s important to remember that we have to prepare for all mothers giving birth, as some get severe postpartum hemorrhagewithout any known risk factors.

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