1.Preparation of soluble microneedle patch with fusion protein nanoparticles secreted by Mycobacterium tuberculosis  and application of tuberculosis skin test
		                			
		                			Fan CHEN ; Rong-sheng ZHU ; Jing ZHOU ; Yue HU ; Yun XUE ; Jian-hua KANG ; Wei WANG
Acta Pharmaceutica Sinica 2024;59(6):1804-1811
		                        		
		                        			
		                        			 Rapid epidemiological screening for tuberculosis (TB) usually uses tuberculin pure protein derivative (PPD) skin test, which has limitations such as low specificity and high side effects. ESAT-6 and CFP-10 are secreted proteins of 
		                        		
		                        	
2.Development of Cognitive Assessment Scale for Spinal Cord Injury Rehabilitation and its reliability and validity
Haixia XIE ; Hua ZHAI ; Xinyu WANG ; Jun'an ZHOU ; Feng SHEN ; Airong WU ; Ying LIU ; Rundi CHEN ; Xuheng ZENG ; Peipei LIN ; Fengshui CHANG
Chinese Journal of Modern Nursing 2024;30(26):3507-3513
		                        		
		                        			
		                        			Objective:To develop a Cognitive Assessment Scale for Spinal Cord Injury (SCI) Rehabilitation and conduct reliability and validity tests in community-dwelling patients with SCI.Methods:Based on expectation value theory, social cognition theory, and goal setting theory, a Cognitive Assessment Scale for SCI Rehabilitation was developed through literature review, group discussions, patient trials, and expert verification. From February to December 2021, convenience sampling was used to select 231 community-dwelling patients with SCI as research subjects, including 67 community-dwelling patients with SCI who participated in rehabilitation training at Shanghai Sunshine Rehabilitation Center and 164 patients with SCI in the "Hope Home" WeChat group of Shanghai Sunshine Rehabilitation Center. Research subjects were surveyed using the Cognitive Assessment Scale for SCI Rehabilitation (patient version), 9-item depression scale of Patient Health Questionnaire, 7-item Generalized Anxiety Disorder Scale, EuroQol 5 Dimension-Visual Analogue Scale (EQ-VAS), General Self-Efficacy Scale, and general information questionnaire. SPSS 16.0 software and Amos 21.0 software were used for correlation analysis and reliability and validity testing.Results:The Cognitive Assessment Scale for SCI Rehabilitation (patient version) included two primary dimensions, eight secondary dimensions, and 24 items. The trial showed good results among patients with SCI and their caregivers, and experts generally agreed. Exploratory factor analysis found that the scale were divided into recognition dimension and understanding dimension. Cronbach's α coefficient of the scale was 0.98, the correlation coefficient between each item and its corresponding dimension was 0.75 to 0.88, and our results indicated good test-retest reliability. Correlation analysis showed that patient anxiety and depression scores were negatively correlated with rehabilitation cognitive scores ( P<0.05), and self-efficacy, quality of life were positively correlated with rehabilitation cognitive scores ( P<0.05) . Conclusions:The Cognitive Assessment Scale for SCI Rehabilitation is scientific and feasible, with good reliability and validity, and can be used to evaluate the rehabilitation cognition of community-dwelling patients with SCI.
		                        		
		                        		
		                        		
		                        	
3.Relationship between middle school students bullying behavior and family environment and education style
HUA Long, LI Ning, CHANG Weiwei, TONG Jiani, ZHOU Mengjie, ZHU Lijun, YAO Yingshui, JIN Yuelong
Chinese Journal of School Health 2023;44(2):233-236
		                        		
		                        			Objective:
		                        			To understand the status quo of school bullying among middle school students in Anhui Province and its correlation with family environment and education methods of students related to school bullying, so as  to provide corresponding prevention and controlling measures against school bullying.
		                        		
		                        			Methods:
		                        			The investigation has been conducted on the occurrence of school bullying among middle school students ranging from junior grade one to senior grade three in Hefei, Wuhu, Fuyang of Anhui Province, during which up to 1 826 students information has been gathered through Questionnaire Atar Platform using the school bullying scale and self designed questionnaire. SPSS 26.0 statistical software has been applied for data analysis.
		                        		
		                        			Results:
		                        			The incidence of bullying was 41.40%, and among them, 14.46% were reported to bully others, 39.59%  of them were of being bullied, and 12.65% of them were reported of bullying others and being bullied at the same time. Multivariate Logistic regression corrected model showed that quiet relationship with mother ( OR=1.76, 95%CI =1.22-2.53) was a risk factor for the bully, quiet relationship with father( OR=1.89, 95%CI=1.47-2.43 ), reorganized family ( OR=2.28, 95%CI =1.22-4.29) were the risk factors for the bullied, quiet/poor relationship between parents ( OR=1.52, 95%CI=1.06-2.17; OR=3.15, 95%CI =1.79-5.57) was a risk factor for the bully-bullied; Punishment and abuse( OR=1.45, 95%CI=1.10-1.90; OR=1.82, 95%CI=1.48-2.23; OR=1.47, 95%CI = 1.10- 1.96) were risk factors for the above three behaviors( P <0.05).
		                        		
		                        			Conclusion
		                        			The incidence of school bullying is influenced by family environment and rearing style. In daily life, parents should be mindful of maintaining a good family relationship, fostering active communication with child, which can reduce the occurrence of school bullying.
		                        		
		                        		
		                        		
		                        	
4.Metabolomics study of Berberidis Radix in intervening ulcerative colitis based on UPLC-Q-TOF-MS.
Xue-Li HU ; Chang-Yuan ZHOU ; Rui XU ; Hong LI ; Bao YANG ; Jian LONG ; Xing TU ; Juan NIE ; Ke-Yun LIU ; Ze-Hua HU
China Journal of Chinese Materia Medica 2023;48(9):2490-2499
		                        		
		                        			
		                        			The effect of Tujia medicine Berberidis Radix on endogenous metabolites in the serum and feces of mice with ulcerative colitis(UC) induced by dextran sulfate sodium(DSS) was analyzed by metabolomics technology to explore the metabolic pathway and underlying mechanism of Berberidis Radix in the intervention of UC. The UC model was induced in mice by DSS. Body weight, disease activity index(DAI), and colon length were recorded. The levels of tumor necrosis factor-α(TNF-α) and interleukin-10(IL-10) in colon tissues were determined by ELISA. The levels of endogenous metabolites in the serum and feces were detected by ultra-high-performance liquid chromatography coupled to quadrupole time-of-flight mass spectrometry(UPLC-Q-TOF-MS). Principal component analysis(PCA) and orthogonal partial least squares-discriminant analysis(OPLS-DA) were employed to characterize and screen differential metabolites. The potential metabolic pathways were analyzed by MetaboAnalyst 5.0. The results showed that Berberidis Radix could significantly improve the symptoms of UC mice and increase the level of the anti-inflammatory factor IL-10. A total of 56 and 43 differential metabolites were identified in the serum and feces, respectively, belonging to lipids, amino acids, fatty acids, etc. After the intervention by Berberidis Radix, the metabolic disorder gradually recovered. The involved metabolic pathways included biosynthesis of phenylalanine, tyrosine, and tryptophan, linoleic acid metabolism, phenylalanine metabolism, and glycerophospholipid metabolism. Berberidis Radix can alleviate the symptoms of mice with DSS-induced UC, and the mechanism may be closely related to the re-gulation of lipid metabolism, amino acid metabolism, and energy metabolism.
		                        		
		                        		
		                        		
		                        			Mice
		                        			;
		                        		
		                        			Animals
		                        			;
		                        		
		                        			Colitis, Ulcerative/drug therapy*
		                        			;
		                        		
		                        			Interleukin-10
		                        			;
		                        		
		                        			Metabolomics/methods*
		                        			;
		                        		
		                        			Chromatography, High Pressure Liquid
		                        			
		                        		
		                        	
5.Varieties systematization and standards status analysis of fermented Chinese medicine.
Ting-Ting FU ; Xing-Bin YIN ; Meng-Ru CAI ; Rong-Yue ZHU ; Hua-Ting HUANG ; Shi-Lang LIAO ; Chang-Hai QU ; Xiao-Xu DONG ; Yue-Hua ZHOU ; Jian NI
China Journal of Chinese Materia Medica 2023;48(10):2699-2712
		                        		
		                        			
		                        			Fermented Chinese medicine has long been used. Amid the advance for preservation of experience, the connotation of fermented Chinese medicine has been enriched and improved. However, fermented Chinese medicine prescriptions generally contain a lot of medicinals. The fermentation process is complicated and the conventional fermentation conditions fail to be strictly controlled. In addition, the judgment of the fermentation end point is highly subjective. As a result, quality of fermented Chinese medicine is of great difference among regions and unstable. At the moment, the quality standards of fermented Chinese medicine are generally outdated and different among regions, with simple quality control methods and lacking objective safe fermentation-specific evaluation indictors. It is difficult to comprehensively evaluate and control the quality of fermented medicine. These problems have aroused concern in the industry and also affected the clinical application of fermented Chinese medicine. This article summarized and analyzed the application, quality standards, and the modernization of fermentation technology and quality control methods of fermented Chinese medicine and proposed suggestions for improving the quality standards of the medicine, with a view to improving the overall quality of it.
		                        		
		                        		
		                        		
		                        			Medicine, Chinese Traditional
		                        			;
		                        		
		                        			Reference Standards
		                        			;
		                        		
		                        			Quality Control
		                        			;
		                        		
		                        			Fermentation
		                        			
		                        		
		                        	
6.Clinical Analysis of SET-NUP214 Fusion Gene Positive Patients with Acute Leukemia.
Yang SONG ; Xiao-Yuan GONG ; Shu-Ning WEI ; Qing-Hua LI ; Guang-Ji ZHANG ; Ying WANG ; Hui WEI ; Dong LIN ; Shang-Zhu LI ; Si-Zhou FENG ; Jian-Xiang WANG ; Ying-Chang MI
Journal of Experimental Hematology 2023;31(2):352-357
		                        		
		                        			OBJECTIVE:
		                        			To analyze the characteristics and prognosis of acute leukemia(AL) with SET-NUP214 fusion gene.
		                        		
		                        			METHODS:
		                        			The clinical data of 17 patients over 14 years old newly diagnosed with SET-NUP214 positive AL admitted in Institute of Hematology and Blood Diseases Hospital from August 2017 to May 2021 were analyzed retrospectively.
		                        		
		                        			RESULTS:
		                        			Among the 17 SET-NUP214 positive patients, 13 cases were diagnosed as T-ALL (ETP 3 cases, Pro-T-ALL 6 cases, Pre-T-ALL 3 cases, Medullary-T-ALL 1 case), AML 3 cases (2 cases M5, 1 case M0) and ALAL 1 case. Thirteen patients presented extramedullary infiltration at initial diagnosis. All 17 patients received treatment, and a total of 16 cases achieved complete remission (CR), including 12 cases in patients with T-ALL. The total median OS and RFS time were 23 (3-50) months and 21 (0-48) months, respectively. Eleven patients received allogeneic hematopoietic stem cell transplantation(allo-HSCT), with median OS time of 37.5 (5-50) months and median RFS time of 29.5 (5-48) months. The median OS time of 6 patients in chemotherapy-only group was 10.5 (3-41) months, and median RFS time of 6.5 (3-39) months. The OS and RFS of patients with transplantation group were better than those of chemotherapy-only group (P=0.038). Among the 4 patients who relapsed or refractory after allo-HSCT, the SET-NUP214 fusion gene did not turn negative before transplantation. While, in the group of 7 patients who have not relapsed after allo-HSCT till now, the SET-NUP214 fusion gene expression of 5 patients turned negative before transplantation and other 2 of them were still positive.
		                        		
		                        			CONCLUSION
		                        			The fusion site of SET-NUP214 fusion gene is relatively fixed in AL patients, often accompanied by extramedullary infiltration. The chemotherapy effect of this disease is poor, and allo-HSCT may improve its prognosis.
		                        		
		                        		
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Adolescent
		                        			;
		                        		
		                        			Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			Leukemia, Myeloid, Acute/therapy*
		                        			;
		                        		
		                        			Hematopoietic Stem Cell Transplantation
		                        			;
		                        		
		                        			Acute Disease
		                        			;
		                        		
		                        			Prognosis
		                        			;
		                        		
		                        			Leukemia-Lymphoma, Adult T-Cell/therapy*
		                        			;
		                        		
		                        			Nuclear Pore Complex Proteins
		                        			
		                        		
		                        	
7.Clinical characteristics of 11 patients with chronic lymphocytic leukemia with t (14;19) (q32;q13).
Cheng Hua CUI ; Ya Nan CHANG ; Ji ZHOU ; Cheng Wen LI ; Hui Jun WANG ; Qi SUN ; Yu Jiao JIA ; Qing Hua LI ; Ting Yu WANG ; Lu Gui QIU ; Shu Hua YI
Chinese Journal of Hematology 2023;44(5):418-423
		                        		
		                        			
		                        			Objective: To analyze the clinicopathological characteristics of 11 cases of chronic lymphocytic leukemia (CLL) with t (14;19) (q32;q13) . Methods: The case data of 11 patients with CLL with t (14;19) (q32;q13) in the chromosome karyotype analysis results of the Blood Diseases Hospital, Chinese Academy of Medical Sciences from January 1, 2018, to July 30, 2022, were retrospectively analyzed. Results: In all 11 patients, t (14;19) (q32;q13) involved IGH::BCL3 gene rearrangement, and most of them were accompanied by +12 or complex karyotype. An immunophenotypic score of 4-5 was found in 7 patients and 3 in 4 cases. We demonstrated that CLLs with t (14;19) (q32;q13) had a mutational pattern with recurrent mutations in NOTCH1 (3/7), FBXW7 (3/7), and KMT2D (2/7). The very-high-risk, high-risk, intermediate-risk, and low-risk groups consisted of 1, 1, 6, and 3 cases, respectively. Two patients died, 8 survived, and 2 were lost in follow-up. Four patients had disease progression or relapse during treatment. The median time to the first therapy was 1 month. Conclusion: t (14;19) (q32;q13), involving IGH::BCL3 gene rearrangement, is a rare recurrent cytogenetic abnormality in CLL, which is associated with a poor prognosis.
		                        		
		                        		
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Leukemia, Lymphocytic, Chronic, B-Cell/genetics*
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			Translocation, Genetic
		                        			;
		                        		
		                        			Chromosome Aberrations
		                        			;
		                        		
		                        			Karyotyping
		                        			
		                        		
		                        	
8.Clinical features of 6 children with uridine-responsive developmental epileptic encephalopathy 50 caused by CAD gene variants.
Ling ZHOU ; Fang FANG ; Jie DENG ; Shuang Jun LIU ; Chun Hong CHEN ; Hua LI ; Chang Hong REN ; Ye WU
Chinese Journal of Pediatrics 2023;61(5):453-458
		                        		
		                        			
		                        			Objective: To analyze the clinical features of children with uridine responsive developmental epileptic encephalopathy 50 (DEE50) caused by CAD gene variants. Methods: A retrospective study was conducted on 6 patients diagnosed with uridine-responsive DEE50 caused by CAD gene variants at Beijing Children's Hospital and Peking University First Hospital from 2018 to 2022. The epileptic seizures, anemia, peripheral blood smear, cranial magnetic resonance imaging (MRI), visual evoked potential (VEP), genotype features and the therapeutic effect of uridine were descriptively analyzed. Results: A total of 6 patients, including 3 boys and 3 girls, aged 3.5(3.2,5.8) years, were enrolled in this study. All patients presented with refractory epilepsy, anemia with anisopoikilocytosis and global developmental delay with regression. The age of epilepsy onset was 8.5 (7.5, 11.0) months, and focal seizures were the most common seizure type (6 cases). Anemia ranged from mild to severe. Four patients had peripheral blood smears prior to uridine administration, showing erythrocytes of variable size and abnormal morphology, and normalized at 6 (2, 8) months after uridine supplementation. Two patients suffered from strabismus, 3 patients had VEP examinations, indicating of suspicious optic nerve involvement, and normal fundus examinations. VEP was re-examined at 1 and 3 months after uridine supplementation, suggesting significant improvement or normalization. Cranial MRI were performed at 5 patients, demonstrating cerebral and cerebellar atrophy. They had cranial MRI re-examined after uridine treatment with a duration of 1.1 (1.0, 1.8) years, indicating significant improvement in brain atrophy. All patients received uridine orally at a dose of 100 mg/(kg·d), the age at initiation of uridine treatment was 1.0 (0.8, 2.5) years, and the duration of treatment was 2.4 (2.2, 3.0) years. Immediate cession of seizures was observed within days to a week after uridine supplementation. Four patients received uridine monotherapy and were seizure free for 7 months, 2.4 years, 2.4 years and 3.0 years respectively. One patient achieved seizure free for 3.0 years after uridine supplementation and had discontinued uridine for 1.5 years. Two patients were supplemented with uridine combined with 1 to 2 anti-seizure medications and had a reduced seizure frequency of 1 to 3 times per year, and they had achieved seizure free for 8 months and 1.4 years respectively. Conclusions: The clinical manifestations of DEE50 caused by CAD gene variants present a triad of refractory epilepsy, anemia with anisopoikilocytosis, and psychomotor retardation with regression, accompanied by suspected optic nerve involvement, all of which respond to uridine treatment. Prompt diagnosis and immediate uridine supplementation could lead to significant clinical improvement.
		                        		
		                        		
		                        		
		                        			Male
		                        			;
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Child
		                        			;
		                        		
		                        			Infant
		                        			;
		                        		
		                        			Epilepsy/genetics*
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			Drug Resistant Epilepsy
		                        			;
		                        		
		                        			Uridine
		                        			;
		                        		
		                        			Evoked Potentials, Visual
		                        			;
		                        		
		                        			Anemia
		                        			;
		                        		
		                        			Electroencephalography/adverse effects*
		                        			;
		                        		
		                        			Neurodegenerative Diseases
		                        			
		                        		
		                        	
9.Incidence and prognosis of olfactory and gustatory dysfunctions related to infection of SARS-CoV-2 Omicron strain: a national multi-center survey of 35 566 population.
Meng Fan LIU ; Rui Xia MA ; Xian Bao CAO ; Hua ZHANG ; Shui Hong ZHOU ; Wei Hong JIANG ; Yan JIANG ; Jing Wu SUN ; Qin Tai YANG ; Xue Zhong LI ; Ya Nan SUN ; Li SHI ; Min WANG ; Xi Cheng SONG ; Fu Quan CHEN ; Xiao Shu ZHANG ; Hong Quan WEI ; Shao Qing YU ; Dong Dong ZHU ; Luo BA ; Zhi Wei CAO ; Xu Ping XIAO ; Xin WEI ; Zhi Hong LIN ; Feng Hong CHEN ; Chun Guang SHAN ; Guang Ke WANG ; Jing YE ; Shen Hong QU ; Chang Qing ZHAO ; Zhen Lin WANG ; Hua Bin LI ; Feng LIU ; Xiao Bo CUI ; Sheng Nan YE ; Zheng LIU ; Yu XU ; Xiao CAI ; Wei HANG ; Ru Xin ZHANG ; Yu Lin ZHAO ; Guo Dong YU ; Guang Gang SHI ; Mei Ping LU ; Yang SHEN ; Yu Tong ZHAO ; Jia Hong PEI ; Shao Bing XIE ; Long Gang YU ; Ye Hai LIU ; Shao wei GU ; Yu Cheng YANG ; Lei CHENG ; Jian Feng LIU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2023;58(6):579-588
		                        		
		                        			
		                        			Objective: This cross-sectional investigation aimed to determine the incidence, clinical characteristics, prognosis, and related risk factors of olfactory and gustatory dysfunctions related to infection with the SARS-CoV-2 Omicron strain in mainland China. Methods: Data of patients with SARS-CoV-2 from December 28, 2022, to February 21, 2023, were collected through online and offline questionnaires from 45 tertiary hospitals and one center for disease control and prevention in mainland China. The questionnaire included demographic information, previous health history, smoking and alcohol drinking, SARS-CoV-2 vaccination, olfactory and gustatory function before and after infection, other symptoms after infection, as well as the duration and improvement of olfactory and gustatory dysfunction. The self-reported olfactory and gustatory functions of patients were evaluated using the Olfactory VAS scale and Gustatory VAS scale. Results: A total of 35 566 valid questionnaires were obtained, revealing a high incidence of olfactory and taste dysfunctions related to infection with the SARS-CoV-2 Omicron strain (67.75%). Females(χ2=367.013, P<0.001) and young people(χ2=120.210, P<0.001) were more likely to develop these dysfunctions. Gender(OR=1.564, 95%CI: 1.487-1.645), SARS-CoV-2 vaccination status (OR=1.334, 95%CI: 1.164-1.530), oral health status (OR=0.881, 95%CI: 0.839-0.926), smoking history (OR=1.152, 95%CI=1.080-1.229), and drinking history (OR=0.854, 95%CI: 0.785-0.928) were correlated with the occurrence of olfactory and taste dysfunctions related to SARS-CoV-2(above P<0.001). 44.62% (4 391/9 840) of the patients who had not recovered their sense of smell and taste also suffered from nasal congestion, runny nose, and 32.62% (3 210/9 840) suffered from dry mouth and sore throat. The improvement of olfactory and taste functions was correlated with the persistence of accompanying symptoms(χ2=10.873, P=0.001). The average score of olfactory and taste VAS scale was 8.41 and 8.51 respectively before SARS-CoV-2 infection, but decreased to3.69 and 4.29 respectively after SARS-CoV-2 infection, and recovered to 5.83and 6.55 respectively at the time of the survey. The median duration of olfactory and gustatory dysfunctions was 15 days and 12 days, respectively, with 0.5% (121/24 096) of patients experiencing these dysfunctions for more than 28 days. The overall self-reported improvement rate of smell and taste dysfunctions was 59.16% (14 256/24 096). Gender(OR=0.893, 95%CI: 0.839-0.951), SARS-CoV-2 vaccination status (OR=1.334, 95%CI: 1.164-1.530), history of head and facial trauma(OR=1.180, 95%CI: 1.036-1.344, P=0.013), nose (OR=1.104, 95%CI: 1.042-1.171, P=0.001) and oral (OR=1.162, 95%CI: 1.096-1.233) health status, smoking history(OR=0.765, 95%CI: 0.709-0.825), and the persistence of accompanying symptoms (OR=0.359, 95%CI: 0.332-0.388) were correlated with the recovery of olfactory and taste dysfunctions related to SARS-CoV-2 (above P<0.001 except for the indicated values). Conclusion: The incidence of olfactory and taste dysfunctions related to infection with the SARS-CoV-2 Omicron strain is high in mainland China, with females and young people more likely to develop these dysfunctions. Active and effective intervention measures may be required for cases that persist for a long time. The recovery of olfactory and taste functions is influenced by several factors, including gender, SARS-CoV-2 vaccination status, history of head and facial trauma, nasal and oral health status, smoking history, and persistence of accompanying symptoms.
		                        		
		                        		
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Adolescent
		                        			;
		                        		
		                        			SARS-CoV-2
		                        			;
		                        		
		                        			Smell
		                        			;
		                        		
		                        			COVID-19/complications*
		                        			;
		                        		
		                        			Cross-Sectional Studies
		                        			;
		                        		
		                        			COVID-19 Vaccines
		                        			;
		                        		
		                        			Incidence
		                        			;
		                        		
		                        			Olfaction Disorders/etiology*
		                        			;
		                        		
		                        			Taste Disorders/etiology*
		                        			;
		                        		
		                        			Prognosis
		                        			
		                        		
		                        	
10.Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Hui XI ; Qin LIU ; Dong Hua XIE ; Xu ZHOU ; Wang Lan TANG ; De Guo TANG ; Chun Yan ZENG ; Qiong WANG ; Xing Hui NIE ; Jin Ping PENG ; Xiao Ya GAO ; Hong Liang WU ; Hao Qing ZHANG ; Li QIU ; Zong Hui FENG ; Shu Yuan WANG ; Shu Xiang ZHOU ; Jun HE ; Shi Hao ZHOU ; Fa Qun ZHOU ; Jun Qing ZHENG ; Shun Yao WANG ; Shi Ping CHEN ; Zhi Fen ZHENG ; Xiao Yuan MA ; Jun Qun FANG ; Chang Biao LIANG ; Hua WANG
Biomedical and Environmental Sciences 2023;36(2):127-134
		                        		
		                        			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.
		                        		
		                        		
		                        		
		                        			Humans
		                        			;
		                        		
		                        			beta-Thalassemia/genetics*
		                        			;
		                        		
		                        			alpha-Thalassemia/genetics*
		                        			;
		                        		
		                        			Hemoglobinopathies/genetics*
		                        			;
		                        		
		                        			China/epidemiology*
		                        			;
		                        		
		                        			High-Throughput Nucleotide Sequencing
		                        			
		                        		
		                        	
            

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