Biomedical and Environmental Sciences

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Report on Cardiovascular Health and Diseases in China 2023: An Updated Summary (30 day view times: 69)

National Center for Cardiovascular Diseases The Writing Committee of the Report on Cardiovascular Health and Diseases in China

2024, 37(9): 949-992. doi: 10.3967/bes2024.162

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Since 1990, China has made considerable progress in resolving the problem of “treatment difficulty” of cardiovascular diseases (CVD). The prevalent unhealthy lifestyle among Chinese residents has exposed a massive proportion of the population to CVD risk factors, and this situation is further worsened due to the accelerated aging population in China. CVD remains one of the greatest threats to the health of Chinese residents. In terms of the proportions of disease mortality among urban and rural residents in China, CVD has persistently ranked first. In 2021, CVD accounted for 48.98% and 47.35% of deaths in rural and urban areas, respectively. Two out of every five deaths can be attributed to CVD. To implement a national policy “focusing on the primary health institute and emphasizing prevention” and truly achieve a shift of CVD prevention and treatment from hospitals to communities, the National Center for Cardiovascular Diseases has organized experts from relevant fields across China to compile the “Report on Cardiovascular Health and Diseases in China” annually since 2005. The 2024 report is established based on representative, published, and high-quality big-data research results from cross-sectional and cohort population epidemiological surveys, randomized controlled clinical trials, large sample registry studies, and typical community prevention and treatment cases, along with data from some projects undertaken by the National Center for Cardiovascular Diseases. These firsthand data not only enrich the content of the current report but also provide a more timely and comprehensive reflection of the status of CVD prevention and treatment in China.

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Cardiac Organoids: Emerging Tools for Investigating Environmental Roles in Cardiomyopathy Pathogenesis and Therapeutic Development (30 day view times: 33)

Yaoyao Xu, Zhimin Wang

2026, 39(1): 82-104. doi: 10.3967/bes2025.104

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Human cardiac organoids have revolutionized the study of cardiac development, disease modeling, drug discovery, and regenerative therapies. This review systematically discusses strategies and progress in the construction of cardiac organoids, categorizing them into three main types: cardiac spheroids, self-organizing/assembloid organoids, and organoid-on-a-chip systems. This review uniquely integrates the advances in vascularization, organ-on-chip design, and environmental cardiotoxicity modeling within cardiac organoid platforms, offering a critical synthesis that is absent in the literature. In the context of escalating environmental threats to cardiovascular health, there is an urgent need for physiologically relevant models to accurately identify cardiac toxicants and elucidate their underlying mechanisms of action. This review highlights advances in cardiac organoid applications for disease modeling—including congenital heart defects and acquired cardiovascular diseases—drug development, toxicity screening, and the study of environmentally induced cardiovascular pathogenesis. In addition, it critically examines ongoing challenges and underscores opportunities brought by bioengineering approaches. Finally, we propose future directions for developing standardized cardiac organoid platforms with clinical predictability, aiming to expand the utility of this technology across broader research applications.

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Joint Associations of Sarcopenia and Social Isolation with Mortality: Two Prospective Cohort Studies across Different Cultural Contexts (30 day view times: 29)

Juanjuan Li, Zhe Zhang, Jijuan Zhang, Yuxiang Wang, Hancheng Yu, Gang Liu, An Pan, Yunfei Liao, Tingting Geng

2026, 39(1): 3-14. doi: 10.3967/bes2025.113

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Objective This study aims to investigate the joint associations of sarcopenia and social isolation with mortality risk. Methods Using data from the Chinese Longitudinal Healthy Longevity Survey (CLHLS) and the UK Biobank, sarcopenia was diagnosed according to European and Asian Working Groups for Sarcopenia criteria. Social isolation was assessed using standardized questionnaires, including questions on solitude, frequency of social activities, contact with others, and marital status (for the CLHLS only). Results During the follow-up period, 8,249 deaths occurred in the CLHLS and 26,670 deaths in the UK Biobank groups. While no significant interaction was observed between sarcopenia and social isolation in predicting all-cause mortality in the CLHLS cohort, the association between social isolation and mortality was stronger among individuals with sarcopenia in the UK Biobank (P-interaction = 0.03, relative risk due to interaction: 0.23, 95% confidence interval [CI]: 0.06–0.41). Further joint analyses showed that participants with sarcopenia and high levels of social isolation had the highest mortality risk (hazard ration [HR]: 1.99; 95% CI: [1.74–2.28] in the CLHLS and 1.69 [1.55–1.85] in the UK Biobank) compared to those without either condition. Conclusion The combination of social isolation and sarcopenia synergistically increases the risk of mortality in middle-aged and older adults across diverse populations.

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Report on Cardiovascular Health and Diseases in China 2022: an Updated Summary (30 day view times: 20)

The Writing Committee of the Report on Cardiovascular Health and Diseases in China

2023, 36(8): 669-701. doi: 10.3967/bes2023.106

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In the past 30 years, the accessibility and quality index of medical care have made remarkable progress in China, ranking the first among middle-income countries. Many cardiovascular technologies are at or near the world's leading level, and significant progress has been achieved in China solving the problem of “treatment difficulty” of cardiovascular diseases (CVD). However, due to the prevalence of unhealthy lifestyles among Chinese residents, a huge population with CVD risk factors, accelerated population aging, and other reasons, the incidence and mortality rate of CVD are still increasing, and the turning point of the decline in disease burden has not appeared yet in China. In terms of proportions of disease mortality among urban and rural residents, CVD still ranks the first. In 2020, CVD accounted for 48.00% and 45.86% of the causes of death in rural and urban areas, respectively; two out of every five deaths were due to CVD. It is estimated that the number of current CVD patients in China is around 330 million, including 13 million stroke, 11.39 million coronary heart disease, 8.9 million heart failure, 5 million pulmonary heart disease, 4.87 million atrial fibrillation, 2.5 million rheumatic heart disease, 2 million congenital heart disease, 45.3 million peripheral artery disease, and 245 million hypertension cases. China has entered a new stage of transformation from high-speed development to high-quality development, and the prevention and control of CVD in China should also shift from previous emphasis on scale growth to strategies focusing more on strategic and key technological development in order to curb the trend of increasing incidence and mortality rates of CVD.

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Long-term Cumulative Depressive Symptoms and Incident Cardiovascular Disease in Middle-aged and Older Population: Two Cohort Studies (30 day view times: 18)

Fangfei You, Yining Gao, Wenfang Zhong, Zhihao Li, Jian Gao, Dong Shen, Xiaomeng Wang, Weiqi Song, Qi Fu, Haoyu Yan, Jiahao Xie, Huan Chen, Hao Yan, Chen Mao

2026, 39(1): 15-25. doi: 10.3967/bes2025.165

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Objective Elevated depressive symptoms are well-documented among geriatric adults with cardiovascular disease (CVD); however, few studies have accounted for long-term cumulative depressive symptom exposure. This study determined the relationship between cumulative depressive symptoms and CVD. Methods Individual participant data were obtained from the China Health and Retirement Longitudinal Study (CHARLS) and Health and Retirement Study (HRS). Eligible participants had access to assessment information on depressive symptoms and had no history of CVD at baseline. Long-term cumulative depressive symptoms were estimated by calculating the area under the curve based on the Center for Epidemiological Studies Depression Scale. Results Herein, 8,861 participants from CHARLS (mean age: 58.58 years; male: 48.6%) and 7,284 from HRS (60.94 years; 35.0%) were enrolled. The median follow-up period was 5 years for the CHARLS and 10 years for the HRS. Compared with the first quartile of cumulative depressive symptoms, the HRs (95% CI) in the fourth quartile were 1.73 (1.48, 2.02) for predicting CVD (P < 0.001), 1.83 (1.52, 2.19) for heart disease (P < 0.001), 1.53 (95% CI: 1.17, 1.99) for stroke (P = 0.002) in CHARLS. For HRS, the HRs (95% CI) were 1.41 (95% CI: 1.27, 1.57; P < 0.001), 1.42 (95% CI: 1.26, 1.59; P < 0.001), and 1.30 (95% CI: 1.06, 1.58; P = 0.010) respectively. Strong dose-response relationships were observed, with similar results for the two cohorts. Conclusion Long-term cumulative depressive symptoms were significantly associated with incident CVD in middle-aged and older adults, providing insights into controlling long-term depressive symptoms to improve this cohort’s health.

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Climate-Sensitive Infectious Diseases under Global Climate Change (30 day view times: 18)

Qiao Liu, Min Liu, Jue Liu

2025, 38(9): 1129-1141. doi: 10.3967/bes2025.077

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Climate and weather significantly influence the duration, timing, and intensity of disease outbreaks, reshaping the global landscape of infectious diseases. Rising temperatures and shifts in precipitation patterns driven by climate change can directly impact the survival and reproduction of pathogens and vector organisms. Moreover, climate change is expected to exacerbate extreme weather events, including floods and droughts, which can disrupt infrastructure and increase the risk of water- and foodborne diseases. There are potential shifts in the temporal and spatial patterns of infectious disease transmission owing to climate change. Furthermore, climate change may alter the epidemiology of vaccine-preventable diseases. These climatic variations not only affect the ecological characteristics of pathogens and vectors but also indirectly influence human behaviors and socioeconomic conditions, further amplifying disease transmission risks. Addressing this challenge requires an interdisciplinary collaboration and comprehensive public health strategies. This review aims to synthesize the current evidence on the impact of climate change on climate-sensitive infectious diseases and elucidate the underlying mechanisms and transmission pathways. Additionally, we explored adaptive policy strategies to mitigate the public health burden of infectious diseases in the context of climate change, offering insights for global health governance and disease control efforts.

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Impact of PCSK9 Inhibitor Recaticimab on Hyperlipidemia and Plasma Glucose: A Randomized, Double-Blind, Placebo-Controlled Phase 1b/2 Study (30 day view times: 16)

Ye Hu, Chen Chen, Xiaohui He, Shuyu Zhang, Xuhong Wang

2025, 38(10): 1246-1254. doi: 10.3967/bes2025.123

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Objective Recaticimab (SHR-1209) significantly reduces low-density lipoprotein cholesterol levels. However, its effect on glucose metabolism remains unclear. This study aimed to evaluate its effect on glycemic parameters in a Chinese population. Methods Recaticimab versus placebo was administered in a 5:1 ratio to 110 hyperlipidemia patients who were followed up for 24 weeks. Glycated hemoglobin (HbA1c) levels were measured at baseline every 12 weeks. Fasting plasma glucose (FPG) levels were measured at baseline at week 1, 3, 5, 8, 12, 16, 20, and 24. Repeated-measures mixed-effects models were used to determine the longitudinal association between reacticimab and FPG and HbA1c levels. Results Among the 81 participants with normal glucose metabolism, HbA1c levels significantly decreased (F = 4.568, P = 0.036). In the 29 participants with abnormal glucose metabolism, a significant time effect was observed for FPG levels (F = 2.492, P = 0.016). For participants with normal and abnormal glucose metabolism, no significant group × time interaction effects on FPG or HbA1c levels were identified. Conclusion Recaticimab showed no adverse glycemic effects in participants with normal or abnormal glucose metabolism, indicating its safety in patients with or without diabetes.

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Cardiovascular Health and Disease Report in China: Two Decades of Progress (30 day view times: 15)

Shuyao Su, Fangchao Liu

2025, 38(8): 891-892. doi: 10.3967/bes2025.098

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Chinese Expert Consensus on the Application of Metagenomic Sequencing Technology in Ocular Infectious Diseases: A Delphi Method (30 day view times: 14)

Songtao Xu, Zhuyun Qian, Yong Tao

2025, 38(12): 1550-1557. doi: 10.3967/bes2025.156

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Hypertrophic Cardiomyopathy: Mechanisms of Pathogenicity (30 day view times: 14)

Baoxi Wang, Yueting Zhou, Yipin Zhao, Yong Cheng, Jun Ren, Guanchang Tan, Xiaohu Wang

2025, 38(8): 988-1000. doi: 10.3967/bes2025.096

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Hypertrophic cardiomyopathy (HCM) is a major contributor to cardiovascular diseases (CVD), the leading cause of death globally. HCM can precipitate heart failure (HF) by causing the cardiac tissue to weaken and stretch, thereby impairing its pumping efficiency. Moreover, HCM increases the risk of atrial fibrillation, which in turn elevates the likelihood of thrombus formation and stroke. Given these significant clinical ramifications, research into the etiology and pathogenesis of HCM is intensifying at multiple levels. In this review, we discuss and synthesize the latest findings on HCM pathogenesis, drawing on key experimental studies conducted both in vitro and in vivo. We also offer our insights and perspectives on these mechanisms, while highlighting the limitations of current research. Advancing fundamental research in this area is essential for developing effective therapeutic interventions and enhancing the clinical management of HCM.

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Interpretation of Annual Report on Cardiovascular Health and Diseases in China 2024 (30 day view times: 13)

Mingbo Liu, Xinye He, Xiaohong Yang, Zengwu Wang

2025, 38(8): 893-917. doi: 10.3967/bes2025.099

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Cardiovascular diseases (CVD) and their risk factors are exerting an increasingly significant impact on public health, and the incidence rate of CVD continues to rise. This article provides an interpretation of essentials from the newly published Annual Report on Cardiovascular Health and Diseases in China (2024), aiming to offer scientific evidence for CVD prevention, treatment, and the formulation of relevant policies.

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Analysis of a Community-based Intervention to Reduce Heat-related Illness during Heat Waves in Licheng, China:a Quasi-experimental Study (30 day view times: 13)

LI Jing, XU Xin, ZHAO Yun, LIU Zhi Dong, CAO Li Na, JIANG Bao Fa

2016, 29(11): 802-813. doi: 10.3967/bes2016.107

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Objective To reduce health-related threats of heat waves, interventions have been implemented in many parts of the world. However, there is a lack of higher-level evidence concerning the intervention efficacy. This study aimed to determine the efficacy of an intervention to reduce the number of heat-related illnesses.
Methods A quasi-experimental design was employed by two cross-sectional surveys in the year 2014 and 2015, including 2,240 participants and 2,356 participants, respectively. Each survey was designed to include one control group and one intervention group, which conducted in Licheng, China. A representative sample was selected using a multistage sampling method. Data, collected from questionnaires about heat waves in 2014 and 2015, were analyzed using a difference-in-difference analysis and cost effectiveness analysis. Outcomes included changes in the prevalence of heat-related illnesses and cost-effectiveness variables.
Results Relative to the control participants, the prevalence of heat-related illness in the intervention participants decreased to a greater extent in rural areas than in urban areas (OR=0.495 vs. OR=1.281). Moreover, the cost-effectiveness ratio in the intervention group was less than that in the control group (US$15.06 vs. US$15.69 per participant). Furthermore, to avoid one additional patient, the incremental cost-effectiveness ratio showed that an additional US$14.47 would be needed for the intervention compared to when no intervention was applied.
Conclusion The intervention program may be considered a worthwhile investment for rural areas that are more likely to experience heat waves. Meanwhile, corresponding improving measures should be presented towards urban areas. Future research should examine whether the intervention strategies could be spread out in other domestic or international regions where heat waves are usually experienced.

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The Association between GLP-1 Receptor-Based Agonists and the Incidence of Asthma in Patients with Type 2 Diabetes and/or Obesity: A Meta-Analysis (30 day view times: 12)

Mengqing Zhang, Chu Lin, Xiaoling Cai, Ruoyang Jiao, Shuzhen Bai, Zonglin Li, Suiyuan Hu, Fang Lyu, Wenjia Yang, Linong Ji

2024, 37(6): 607-616. doi: 10.3967/bes2024.067

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Objective Recent studies have indicated potential anti-inflammatory effects of glucagon-like peptide-1 receptor agonists (GLP-1RAs) on asthma, which is often comorbid with type 2 diabetes mellitus (T2DM) and obesity. Therefore, we conducted a meta-analysis to assess the association between the administration of glucagon-like peptide-1 (GLP-1) receptor-based agonists and the incidence of asthma in patients with T2DM and/or obesity. Methods PubMed, Web of Science, Embase, the Cochrane Central Register of Controlled Trials, and Clinicaltrial.gov were systematically searched from inception to July 2023. Randomized controlled trials (RCTs) of GLP-1 receptor-based agonists (GLP-1RA, GLP-1 based dual and triple receptor agonist) with reports of asthma events were included. Outcomes were computed as risk ratios (RR) using a fixed-effects model. Results Overall, 39 RCTs with a total of 85,755 participants were included. Compared to non-GLP-1 receptor-based agonist users, a trend of reduced risk of asthma was observed in patients with T2DM or obesity using GLP-1 receptor-based agonist treatments, although the difference was not statistically significant [RR = 0.91, 95% confidence interval (CI): 0.68 to 1.24]. Further Subgroup analyses indicated that the use of light-molecular-weight GLP-1RAs might be associated with a reduced the risk of asthma when compared with non-users (RR = 0.65, 95% CI: 0.43 to 0.99, P = 0.043). We also performed sensitivity analyses for participant characteristics, study design, drug structure, duration of action, and drug subtypes. However, no significant associations were observed. Conclusion Compared with non-users, a modest reduction in the incidence of asthma was observed in patients with T2DM or obesity using GLP-1 receptor-based agonist treatments. Further investigations are warranted to assess the association between GLP-1 receptor-based agonists and the risk of asthma.

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Plasma Metabolites Mediate the Associations of Gut Microbial Diversity with Ambulatory Blood Pressure and Its Variability (30 day view times: 12)

Zhenghao Tang, Zhennan Lin, Jianxin Li, Fangchao Liu, Jie Cao, Shufeng Chen, Keyong Huang, Hongfan Li, Dongsheng Hu, Jianfeng Huang, Dongfeng Gu, Xiangfeng Lu

2026, 39(1): 26-35. doi: 10.3967/bes2025.089

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Objective Evidence suggests that depleted gut microbial α-diversity is associated with hypertension; however, whether metabolic markers affect this relationship remains unknown. We aimed to determine the potential metabolites mediating the associations of α-diversity with blood pressure (BP) and BP variability (BPV). Methods Metagenomics and plasma targeted metabolomics were conducted on 523 Chinese participants from the MetaSalt study. The 24-hour, daytime, and nighttime BP and BPV were calculated based on ambulatory BP measurements. Linear mixed models were used to characterize the relationships between α-diversity (Shannon and Chao1 index) and BP indices. Mediation analyses were performed to assess the contribution of metabolites to the observed associations. The influence of key metabolites on hypertension was further evaluated in a prospective cohort of 2,169 participants. Results Gut microbial richness (Chao1) was negatively associated with 24-hour systolic BP, daytime systolic BP, daytime diastolic BP, 24-hour systolic BPV, and nighttime systolic BPV (P < 0.05). Moreover, 26 metabolites were strongly associated with richness (Bonferroni P < 0.05). Among them, four key metabolites (imidazole propionate, 2-hydroxy-3-methylbutyric acid, homovanillic acid, and hydrocinnamic acid) mediated the associations between richness and BP indices (proportions of mediating effects: 14.1%–67.4%). These key metabolites were also associated with hypertension in the prospective cohort. For example, each 1-standard deviation unit increase in hydrocinnamic acid significantly reduced the risk of prevalent (OR [95% CI] = 0.90 [0.82, 0.99]; P = 0.03) and incident hypertension (HR [95% CI] = 0.83 [0.71, 0.96]; P = 0.01). Conclusion Our results suggest that gut microbial richness correlates with lower BP and BPV, and that certain metabolites mediate these associations. These findings provide novel insights into the pathogenesis and prevention of hypertension.

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The Increasing Trends of Short and Long Sleep Duration among Chinese Adults from 2010 to 2018: A Repeated Nationally Representative Cross-sectional Survey (30 day view times: 12)

Yun Chen, Lan Wang, Mei Zhang, Sifan Hu, Yan Shao, Xiao Zhang, Chun Li, Jie Chen, Zhenping Zhao, Yanhong Dong, Lin Lu, Maigeng Zhou, Limin Wang, Junliang Yuan, Hongqiang Sun

2026, 39(1): 46-59. doi: 10.3967/bes2025.093

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Objective This study aimed to determine the temporal trends in sleep duration among Chinese adults. Methods In this series of repeated nationally representative cross-sectional surveys (China Chronic Disease and Risk Factors Surveillance) conducted between 2010 and 2018, a total of 645,420 adult participants (97,741 in 2010; 175,749 in 2013; 187,777 in 2015; and 184,153 in 2018) were included in the trend analysis. Linear and logistic regression models were utilized to assess trends in sleep duration. Results In 2018, the estimated overall mean sleep duration among the Chinese adult population was 7.58 (SD, 1.45) hours per day, with no significant trend from 2010. A significant increase in short sleep duration (≤ 6 hours) was observed in the total population, from 15.3% (95% CI: 14.1%–16.5%) in 2010 to 18.5% (95% CI: 17.7%–19.3%) in 2018 (P < 0.001). Similarly, the trend in long sleep duration (> 9 hours) was also significant, increasing in weighted prevalence from 7.2% (95% CI: 6.3%–8.1%) in 2010 to 9.0% (95% CI: 8.2%–9.9%) in 2018 (P < 0.001). Conclusion The prevalence of both short and long sleep durations significantly increased among Chinese adults from 2010 to 2018, highlighting the urgency of health initiatives to promote optimal sleep duration in China.

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Nutrition Guidelines of Complementary Feeding for Infants and Toddlers (WS/T 678—2020) (30 day view times: 12)

2023, 36(9): 899-901. doi: 10.3967/bes2023.117

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Trends in Lipids Level and Dyslipidemia among Chinese Adults, 2002-2015 (30 day view times: 12)

SONG Peng Kun, MAN Qing Qing, LI Hong, PANG Shao Jie, JIA Shan Shan, LI Yu Qian, HE Li, ZHAO Wen Hua, ZHANG Jian

2019, 32(8): 559-570. doi: 10.3967/bes2019.074

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Objective To investigate the trends of lipid profiles and dyslipidemia among Chinese adults from 2002 to 2015. Methods Data were collected from three nationally representative cross-sectional surveys. Fasting venous blood samples were collected and serum lipids were tested by biochemical analysis and enzymatic determination. Lipid levels and the prevalence of dyslipidemia among adults were analyzed with complex sampling weighting adjustment for age and gender. Results The weighted means of TC, TG, and LDL-c significantly increased linearly from 3.93, 1.12, and 2.12 mmol/L in 2002 to 4.59, 1.41, and 2.78 mmol/L in 2010 and then to 4.63, 1.47, and 2.87 mmol/L in 2015, respectively; by contrast, HDL-c levels decreased significantly from 1.30 mmol/L to 1.26 mmol/L over the same period. Similar trends in mean non-HDL-c and lipid-related ratios were observed. The weighted dyslipidemia prevalence linearly increased; in particular, hypercholesterolemia increased from 1.6% to 5.6% and then to 5.8%, hypertriglyceridemia increased from 5.7% to 13.6% and then to 15.0%, low HDL-c increased from 18.8% to 35.5% and then to 24.9%, and high LDL-c increased from 1.3% to 5.6% and then to 7.2% (P for trend < 0.001). Conclusion Dyslipidemia increased among Chinese adults from 2002 to 2015. Development of a comprehensive strategy to decrease lipid levels in this population is urgently required.

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Health Determinants in Association with Cancer Mortality from a Health Ecological Perspective (30 day view times: 12)

Chenran Wang, Zilin Luo, Jiaxin Xie, Xiaolu Chen, Yadi Zheng, Zeming Guo, Xiaoyue Shi, Xinyue Zhu, Wei Cao, Fei Wang, Xuesi Dong, Ni Li

2025, 38(12): 1470-1481. doi: 10.3967/bes2025.152

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Objective To explore the health determinants of all-cancer mortality from a health-ecological perspective. Methods Using the health-ecological model, we identified 15 health determinants across five domains: personal innate, behavioral, interpersonal network, socioeconomic, and macroenvironmental characteristics. Data on cancer outcomes and health determinants from 185 countries, classified using the Human Development Index (HDI), were extracted from GLOBOCAN 2022, the World Health Organization Global Health Observatory, the Global Burden of Disease Study 2021, the United Nations, and the World Bank. A multivariate linear regression model was used to estimate the association between health determinants and cancer outcomes. Results A total of 153 countries with complete information on cancer outcomes and health determinants were enrolled in the study. A higher all-cancer age-standardized mortality rate (ASMR) was associated with current tobacco use, alcohol consumption, obesity, agricultural employment, and lag-distributed income. In women aged 15–49 years, being married or in a union was associated with a lower ASMR. Early-onset ASMR was positively associated with agricultural employment, lag-distributed income, and unsafe sanitation. Notable sex differences were observed, although tobacco use and obesity were identified as risk factors in both sexes. Conclusion We underscore the crucial need to incorporate cross-sectoral interventions within a resilient healthcare system to effectively mitigate the cancer mortality burden.

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Associations between Premature Menopause and Cardiovascular-Kidney-Metabolic Syndrome: A Prospective Cohort Study from the UK Biobank (30 day view times: 12)

Ming Jin, Zeping Yang, Ziyi Zhang, Zhexin Luo, Ninghao Huang, Tao Huang, Xiaojing Liu, Nan Li

2026, 39(1): 105-110. doi: 10.3967/bes2026.002

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Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China (30 day view times: 11)

XI Hui, LIU Qin, XIE Dong Hua, ZHOU Xu, TANG Wang Lan, TANG De Guo, ZENG Chun Yan, WANG Qiong, NIE Xing Hui, PENG Jin Ping, GAO Xiao Ya, WU Hong Liang, ZHANG Hao Qing, QIU Li, FENG Zong Hui, WANG Shu Yuan, ZHOU Shu Xiang, HE Jun, ZHOU Shi Hao, ZHOU Fa Qun, ZHENG Jun Qing, WANG Shun Yao, CHEN Shi Ping, ZHENG Zhi Fen, MA Xiao Yuan, FANG Jun Qun, LIANG Chang Biao, WANG Hua

2023, 36(2): 127-134. doi: 10.3967/bes2023.016

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Objective This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province. Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed. Results The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α^3.7/αα (50.23%) and β^IVS-II-654/β^N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively. Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

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