Biomedical and Environmental Sciences

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Report on Cardiovascular Health and Diseases in China 2023: An Updated Summary (30 day view times: 60)

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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Cardiovascular Health and Disease Report in China: Two Decades of Progress (30 day view times: 39)

Shuyao Su, Fangchao Liu

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

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Trends in Antibiotic Consumption and Antimicrobial Resistance in China: An Ecological Analysis from 2016 to 2022 (30 day view times: 34)

Fei Zhao, Zinan Zhao, Di Chen, Bolin Zhu, Tianqi Zhang, Yuanchao Zhu, Xuelin Sun, Liang Liang, Nan Zheng, Lili Zou, Wenfeng Xu, Sirui Guo, Yue Wang, Ming Zhao, Xin Hu, Pengfei Jin

2026, 39(2): 158-170. doi: 10.3967/bes2025.169

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Objective To examine national trends in antibiotic consumption and antimicrobial resistance (AMR) among six WHO-priority bacterial pathogens in China from 2016 to 2022. Methods This ecological study analyzed national and provincial data from the China Antibacterial Resistance Surveillance System (CARSS) and the National Hospital Information Network. Beta regression models assessed temporal trends, and hierarchical models evaluated associations between antibiotic use and resistance. Results From 2016 to 2022, carbapenem resistance in Acinetobacter baumannii and Pseudomonas aeruginosa, and vancomycin resistance in Enterococcus faecium and E. faecalis significantly declined (β < 0, P < 0.010), while carbapenem-resistant Klebsiella pneumoniae increased (β = 0.081, P < 0.001). Nationwide antibiotic consumption rose across 10 major classes. Positive associations were found between carbapenem use and resistance in A. baumannii (z = 2.719, P = 0.007) and P. aeruginosa (z = 3.241, P = 0.001), and between vancomycin use and resistance in E. faecium (z = 4.510, P = 0.001) and E. faecalis (z = 3.210, P = 0.001). Conclusion Carbapenem-resistant K. pneumoniae increased significantly in China, while other resistant pathogens declined. Resistance patterns were linked to the use of multiple antibiotic classes, underscoring the need for strengthened antibiotic stewardship and surveillance.

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Cardiac Organoids: Emerging Tools for Investigating Environmental Roles in Cardiomyopathy Pathogenesis and Therapeutic Development (30 day view times: 29)

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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Benefits of Mindfulness Training on the Mental Health of Women During Pregnancy and Early Motherhood: A Randomized Controlled Trial (30 day view times: 25)

WANG Shu Lei, SUN Meng Yun, HUANG Xing, ZHANG Da Ming, YANG Li, XU Tao, PAN Xiao Ping, ZHENG Rui Min

2023, 36(4): 353-366. doi: 10.3967/bes2023.041

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Objective This study aimed to evaluate the effects of a mindfulness-based psychosomatic intervention on depression, anxiety, fear of childbirth (FOC), and life satisfaction of pregnant women in China. Methods Women experiencing first-time pregnancy (n = 104) were randomly allocated to the intervention group or a parallel active control group. We collected data at baseline (T0), post-intervention (T1), 3 days after delivery (T2), and 42 days after delivery (T3). The participants completed questionnaires for the assessment of the levels of depression, anxiety, FOC, life satisfaction, and mindfulness. Differences between the two groups and changes within the same group were analyzed at four time points using repeated-measures analysis of variance. Results Compared with the active control group, the intervention group reported lower depression levels at T2 (P = 0.038) and T3 (P = 0.013); reduced anxiety at T1 (P = 0.001) and T2 (P = 0.003); reduced FOC at T1 (P < 0.001) and T2 (P = 0.04); increased life satisfaction at T1 (P < 0.001) and T3 (P = 0.015); and increased mindfulness at T1 (P = 0.01) and T2 (P = 0.006). Conclusion The mindfulness-based psychosomatic intervention effectively increased life satisfaction and reduced perinatal depression, anxiety, and FOC.

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Drug-Resistant Pulmonary Tuberculosis among Adolescents and Young Adults in China (30 day view times: 22)

Shengfen Wang, Xichao Ou, Yang Zhou, Bing Zhao, Hui Xia, Yuanyuan Song, Ruida Xing, Yang Zheng, Yanlin Zhao

2026, 39(2): 131-145. doi: 10.3967/bes2025.159

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Objective To determine the proportions of drug-resistant tuberculosis (TB), its trends, and the drug resistance-conferring mutations among patients with pulmonary TB aged 10–24 years in China. Methods The data of patients with pulmonary TB were retrieved from a national drug-resistant TB survey for analysis. Joinpoint regression software was used to analyze time trends. We also used whole genome sequencing to analyze the lineages and drug resistance-conferring mutations of 621 isolates. Results Among 4,235 patients with pulmonary TB, the proportion of new cases of multidrug-resistant tuberculosis (MDR-TB) was 3.18% (95% confidence interval [CI]: 2.37–4.15) for adolescents and 3.76% (95% CI: 3.03–4.60) for young adults; for previously treated patients, MDR-TB accounted for 11.25% (95% CI: 5.28–20.28) of adolescents and 11.05% (95% CI: 6.88–16.55) of young adults. The proportion of patients with MDR-TB remained stable among both new and previously treated patients aged 10–24 years during the study period. Through whole genome sequencing, we found that the most common mutations in the MDR-TB strains were Ser315Thr in the katG gene (71.74%) and Ser450Leu in the rpoB gene (50.00%). Conclusion This study revealed a high proportion of MDR-TB among adolescents and young adults, indicating that urgent and comprehensive measures are needed to reduce the emergence and transmission of drug-resistant TB among this population in China.

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Report on Cardiovascular Health and Diseases in China 2022: an Updated Summary (30 day view times: 21)

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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Spatiotemporal Variability of Influencing Factors on Tuberculosis Incidence in Jiangsu Province, China during 2011−2021 (30 day view times: 21)

Yifan Tang, Tenglong Li, Cheng Chen, Kai Wang, Mingming Chen, Junhui Lin, Sifan Wang, Limei Zhu, Chengxiu Ling, Qiao Liu

2026, 39(2): 234-238. doi: 10.3967/bes2026.006

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Climate-Sensitive Infectious Diseases under Global Climate Change (30 day view times: 21)

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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Interpretation of Annual Report on Cardiovascular Health and Diseases in China 2024 (30 day view times: 19)

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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Hypertrophic Cardiomyopathy: Mechanisms of Pathogenicity (30 day view times: 17)

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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Airflow Obstruction in Post-tuberculosis Lung Disease: A 5-year Prospective Cohort Study (30 day view times: 16)

Zikang Sheng, Wenli Cao, Hongling Chu, Yanqing Le, Junfeng Wu, Yue Zhang, Yafei Rao, Brian Allwood, Yongchang Sun, Xiaoyan Gai

2026, 39(2): 146-157. doi: 10.3967/bes2025.121

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Objective Post tuberculosis lung disease (PTLD) manifests in various forms, including tuberculosis-associated chronic obstructive pulmonary disease (TB-COPD), yet the clinical features of PTLD remain undercharacterized. This study aimed to assess longitudinal changes in lung function over a 5-year period and to identify predictors of airflow obstruction in a cohort of patients treated for active pulmonary TB. Methods Patients with active pulmonary TB were enrolled in this study and were followed during treatment, at treatment completion and five years post-treatment. Assessments included lung function and chest CT, analyzing longitudinal trends and airflow obstruction risk factors. Results Among 53 patients (mean age 36.9 ± 13.9 years; 64.2% male), 7 patients (13.2%) exhibited airflow obstruction. At the 5-year follow-up, the mean FEV₁/FVC declined significantly (76.27% ± 12.04% vs. 80.23% ± 11.02%, P < 0.001) and 9 patients (17.0%) exhibited airflow obstruction. Seven of these patients predominantly showed air trapping consistent with small airway disease on chest CT, aligning with TB-COPD phenotype. Notably, four young-to-middle-aged patients (< 60 years old) had persistent obstruction over the five years. Conclusion The initial test revealed that 13.2% of patients presented with airflow obstruction. By the 5-year follow-up, this proportion had increased to 17.0%, with most cases demonstrating imaging findings aligning with TB-COPD, even among younger, non-smoking individuals. These findings emphasize the importance of long-term follow-up and routine lung function assessments in TB survivors.

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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: 16)

Songtao Xu, Zhuyun Qian, Yong Tao

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

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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: 15)

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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Bone Injury and Fracture Healing Biology (30 day view times: 14)

Ahmad Oryan, Somayeh Monazzah, Amin Bigham-Sadegh

2015, 28(1): 57-71. doi: 10.3967/bes2015.006

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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: 14)

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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Effects of Short-Term Forest Bathing on Human Health in a Broad-Leaved Evergreen Forest in Zhejiang Province, China (30 day view times: 14)

MAO Gen Xiang, LAN Xiao Guang, CAO Yong Bao, CHEN Zhuo Mei, HE Zhi Hua, LV Yuan Dong, WANG Ya Zhen, HU Xi Lian, WANG Guo Fu, YAN Jing

2012, 25(3): 317-324. doi: 10.3967/0895-3988.2012.03.010

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Objective To investigate the effects of short-term forest bathing on human health.Methods Twenty healthy male university students participated as subjects and were randomly divided into two groups of 10.One group was sent on a two-night trip to a broad-leaved evergreen forest,and the other was sent to a city area.Serum cytokine levels reflecting inflammatory and stress response,indicators reflecting oxidative stress,the distribution of leukocyte subsets,and plasma endothelin-1 (ET-1) concentrations were measured before and after the experiment to evaluate the positive health effects of forest environments.A profile of mood states (POMS) evaluation was used to assess changes in mood states.Results No significant differences in the baseline values of the indicators were observed between the two groups before the experiment.Subjects exposed to the forest environment showed reduced oxidative stress and pro-inflammatory level,as evidenced by decreased malondialdehyde,interleukin-6,and tumor necrosis factor α levels compared with the urban group.Serum cortisol levels were also lower than in the urban group.Notably,the concentration of plasma ET-1 was much lower in subjects exposed to the forest environment.The POMS evaluation showed that after exposure to the forest environment,subjects had lower scores in the negative subscales,and the score for vigor was increased.Conclusion Forest bathing is beneficial to human health,perhaps through preventive effects related to several pathological factors.

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TaqMan Real-time RT-PCR Assay for Detecting and Differentiating Japanese Encephalitis Virus (30 day view times: 13)

SHAO Nan, LI Fan, NIE Kai, FU Shi Hong, ZHANG Wei Jia, HE Ying, LEI Wen Wen, WANG Qian Ying, LIANG Guo Dong, CAO Yu Xi, WANG Huan Yu

2018, 31(3): 208-214. doi: 10.3967/bes2018.026

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Objective To detect Japanese encephalitis virus (JEV) rapidly and distinguish its genotypes, a TaqMan-based reverse transcriptase quantitative polymerase chain reaction (RT-PCR) detection system was developed. Methods By aligning the full-length sequences of JEV (G1-G5), six sets of highly specific TaqMan real-time RT-PCR primers and probes were designed based on the highly conserved NS1, NS2, and M genes of JEV, which included one set for non-specific JEV detection and five sets for the detection of specific JEV genotypes. Twenty batches of mosquito samples were used to evaluate our quantitative PCR assay. Results With the specific assay, no other flavivirus were detected. The lower limits of detection of the system were 1 pfu/mL for JEV titers and 100 RNA copies/μL. The coefficients of variation of this real-time RT-PCR were all < 2.8%. The amplification efficiency of this method was between 90% and 103%. Conclusion A TaqMan real-time RT-PCR detection system was successfully established to detect and differentiate all five JEV genotypes.

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Serum Trace Elements and Their Associations with Disease Progression and Survival in Sporadic Amyotrophic Lateral Sclerosis: Insights from a Chinese Cohort (30 day view times: 13)

Hongfen Wang, Qionghua Sun, Rongrong Du, Shiya Wang, Yan Wang, Jiongming Bai, Mao Li, Xusheng Huang

2026, 39(2): 183-191. doi: 10.3967/bes2025.094

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Objective The associations of serum trace element levels with disease progression and survival duration were assessed in individuals diagnosed with sporadic amyotrophic lateral sclerosis (sALS) in China. Methods Clinical data, including diagnostic indicators, clinical characteristics, Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) scores, and serum concentrations of calcium (Ca), magnesium (Mg), iron (Fe), copper (Cu), and zinc (Zn), were collected for hospitalized patients with sALS between 2018 and 2021. Correlation analysis, random forest analysis, and the Gehan–Breslow–Wilcoxon test were used to evaluate the relations between serum trace element levels, disease progression, and survival duration. Results Lower serum Ca levels and higher Mg levels were observed in patients with ALSFRS-R scores < 39. Serum Mg was significantly negatively correlated with ALSFRS-R, trunk, and respiratory scores. Serum Cu and Zn also showed significant negative correlations with the respiratory score, whereas Ca and Fe were not significantly correlated with the ALSFRS-R score. The serum levels of Ca, Mg, Cu, Zn, and Fe remained consistent regardless of the site of disease onset. ALSFRS-R analysis revealed that serum Ca and Mg had a substantial effect on the total ALSFRS-R score, with serum Mg significantly influencing the course of the disease. Notably, low serum Mg levels were associated with extended survival times in patients with sALS. Conclusion Serum levels of Ca and Mg play critical roles in the progression of sALS, and a reduced serum Mg level is related to an extended survival time.

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Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China (30 day view times: 13)

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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