1.Effect of Tuina at "Weizhong (BL 40)" on Spinal Microglial Activation-related Proteins and the IL-10/β-EP Pathway in a Rat Model of Chronic Sciatic Nerve Compression Injury
Tianwei ZHANG ; Xiangqian LYU ; Yani XING ; Liuchen ZHU ; Qingguang ZHU ; Lingjun KONG ; Yanbin CHENG ; Zhen YAN ; Wuquan SUN ; Min FANG ; Zhiwei WU
Journal of Traditional Chinese Medicine 2025;66(7):734-740
ObjectiveTo investigate the analgesic effect of Tuina at the "Weizhong (BL 40)" on neuropathic pain in a rat model of chronic constriction injury (CCI) of the sciatic nerve and its potential central spinal mechanisms. MethodsThirty-two Sprague-Dawley rats were randomly divided into four groups (8 rats in each group), sham-operated group, model group, Tuina group, and blockade group. The CCI model was established in the model group, Tuina group, and the blockade group by ligating the sciatic nerve with catgut, while the sham-operated group underwent only sciatic nerve exposure without ligation. From postoperative day 4 to day 14, rats in the Tuina group and the blockade group received Tuina manipulation at the "Weizhong (BL 40)" using a dynamic pressure distribution measurement system (5 N pressure, 2 Hz frequency, 10 min per session, once daily). The blockade group also received intraperitoneal injections of the microglial inhibitor minocycline (10 mg/kg) once daily. The sham-operated and the model group underwent the same handling and fixation as the Tuina group without actual Tuina. Mechanical withdrawal threshold (MWT) and paw withdrawal latency (PWL) were measured before surgery and on day 3, 7, 10, and 14 post-surgery. Transmission electron microscopy was used to evaluate sciatic nerve injury and repair, measuring axon diameter and total myelinated fiber diameter to calculate the g-ratio. Western Blotting was performed to detect the protein levels of ionized calcium-binding adapter molecule 1 (Iba-1), CD206, CD68, interleukin-10 (IL-10), and β-endorphin (β-EP) precursor pro-opiomelanocortin (POMC) in the ipsilateral spinal dorsal horn. ResultsCompared with the sham-operated group, the model group showed significantly reduced MWT and PWL on day 3, 7, 10, and 14 (P<0.01). Compared with the model group, the Tuina group and the blockade group showed increased MWT and PWL on day 10 and 14 (P<0.05). Compared with the Tuina group, the blockade group exhibited higher MWT on day 7, 10, and 14, and higher PWL on day 10 (P<0.05). Sciatic nerve pathological morphology revealed intact and well-structured myelin in the sham-operated group, while the model group exhibited myelin collapse, distortion, and myelin ovoid formation. The Tuina group displayed partially irregular myelin with occasional myelin collapse, whereas the blockade group exhibited partial myelin irregularities and phospholipid shedding. Compared with the sham-operated group, the model group showed a decreased g-ratio and increased levels of Iba-1 and CD68 in the spinal dorsal horn (P<0.05 or P<0.01). Compared with the model group, the Tuina group and the blockade group exhibited an increased g-ratio and reduced Iba-1 and CD68 levels. Additionally, the Tuina group showed elevated levels of CD206, IL-10, and POMC, whereas the blockade group had decreased CD206 levels (P<0.05). ConclusionTuina at "Weizhong (BL 40)" alleviates neuropathic pain in CCI rats, potentially by regulating microglial activation in the spinal cord, inhibiting M1 polarization while promoting M2 polarization, and activating the IL-10/β-EP pathway to exert analgesic effects.
2.Discussion on Research Paradigm and Layout Based on Disease (Psoriasis) Specifically Responding to Traditional Chinese Medicine
Liu LIU ; Xiaoying SUN ; Mei MO ; Zihan FANG ; Yaqiong ZHOU ; Bin LI ; Xiaoxiao ZHANG ; Xin LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(18):203-211
To implement the Opinions of the State Council of the Central Committee of the Communist Party of China on Promoting the Inheritance and Innovative Development of Traditional Chinese Medicine, delve into the diseases specifically responding to traditional Chinese medicine (TCM), and serve the building of advantageous specialties, clinical talent cultivation, national research layout, and academic innovation, the Chinese Association of Chinese Medicine sponsored the salons in multiple fields to discuss the diseases specifically responding to TCM. On August 26, 2023, the 25th salon on the diseases specifically responding to TCM was held in Shanghai. In view of the advantages of TCM and integrated traditional Chinese and Western medicine in the diagnosis and treatment of psoriasis, Chinese and western medicine experts and interdisciplinary researchers carried out extensive and in-depth discussions and formed specific suggestions and consensus on the diagnosis and treatment of psoriasis with TCM and integrated traditional Chinese and Western medicine. However, there was still a lack of detailed research path. Under the guidance of the Chinese Association of Chinese Medicine, this paper analyzes the problems in the diagnosis and treatment of psoriasis from the occurrence and development of psoriasis. According to the advantages and characteristics of TCM and integrated traditional Chinese and Western medicine in the diagnosis and treatment of psoriasis, this paper puts forward the main points of research layout for psoriasis from the three aspects of psoriasis diagnosis and treatment, comorbidity prevention, and chronic disease management as follows: ① optimization of the syndrome differentiation system for psoriasis, ② optimization of assessment indicators for psoriasis, ③ recurrence mechanisms of psoriasis, ④ construction and research of TCM prevention and treatment of psoriasis recurrence, ⑤ construction of the comorbidity spectrum and TCM theoretical system of psoriasis, ⑥ comorbidity mechanisms of psoriasis. Furthermore, this article proposed the research layout and directions, expected goals and values, and funding priorities. Therefore, on the basis of the series of salons about psoriasis as a disease specifically responding to TCM, this article puts forward the research paradigm of psoriasis, aiming to facilitate the high-quality development of TCM and provide reference for the national research layout, the research and development of new TCM preparations, the selection of research topics, and the formulation of guidelines and consensus.
3.Assessment of suicidal ideation of burn patients in hospital based on international scale
Xiaobei SHI ; Yinqiu MENG ; Junhui SONG ; Xingzhao LI ; Yueyang FANG ; Dongmei WANG ; Xiangyang ZHANG ; Yexiang SUN
Acta Universitatis Medicinalis Anhui 2024;59(8):1471-1476
Objective To analyze and verify the factors influencing the prediction model of suicidal ideation of burn patients in hospital based on international scale.Methods The clinical data of 194 burn patients treated in hospi-tal were retrospectively analyzed.General data questionnaire,ISI,HAMD,HAMA,ASDS and BSHS-B were used to evaluate the influencing factors of suicidal ideation.According to the presence or absence of suicidal ideation,the patients were divided into the suicidal ideation group and the non-suicidal ideation group.The baseline data be-tween the groups were compared,univariate screening of meaningful variables was conducted,and multivariate Lo-gistic regression modeling was further conducted.ROC analysis evaluated model differentiation,and internal verifi-cation was conducted.Results According to the baseline data analysis results,there were no statistically signifi-cant differences in age,BMI,years of education,smoking history,estimated percentage of burned area,head and neck burns,hip and perineal burns,and pain scores in the suicidal ideation group(21/194)compared with the non-suicidal ideation group(173/194).Gender(P=0.047),presence or absence of trunk burn(P=0.022),severity of burn(moderate burn:P=0.002;severe burn:P=0.458;extremely severe burn:P=0.169),ISI score(P=0.001),HAMD score(P=0.001),HAMA score(P<0.001),ASDS score(P=0.003),BSHS-B score(P=0.011)had statistical significance.Multivariate Logistic regression analysis showed that the severity of burn(moderate burn:OR=0.103,P=0.009;severe burn:OR=0.351,P=0.223;extremely severe burn:OR=0.103,P=0.095)and HAMA score(OR=1.136,P=0.007)were independent influencing factors for burn patients with suicidal ideation.The Logistic regression prediction model was established by two independent influ-encing factors.ROC analysis results showed that the model had good differentiation(AUC=0.880,95%CI:0.808-0.952,P<0.001)and the internal verification accuracy was 79.38%.Conclusion The prediction model built on the basis of two independent influencing factors,burn severity and HAMA score,has a good predic-tion accuracy,which is helpful for clinicians to intervene as soon as possible for burn patients with suicidal ideation in hospital,in order to reduce the incidence and enrich clinical psychological research.
4.Manipulation treatment of lumbar disc herniation based on the model of muscles and bones assessment.
Bin XUE ; Tao LIU ; Hong ZHU ; Fei-Yue LI ; Jia-Yu ZHANG ; Qiang WANG ; Xiao-Bing XI ; Ling-Jun KONG ; Xin ZHOU ; Qing-Guang ZHU ; Min FANG
China Journal of Orthopaedics and Traumatology 2024;37(11):1080-1086
OBJECTIVE:
To explore the effectiveness of manipulation treatment for lumbar disc herniation (LDH) based on the model of muscle and bone assessment.
METHODS:
From May 2022 to August 2023, using the methods single-center randomized controlled in Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 72 patients were treated with LDH and divided into muscle and bone assessment model manipulation group and the two step seven gimmick group according to the random number table method, the muscle and bone assessment model manipulation group fall off in 1 case, the two step seven gimmick group falls off in 2 cases. There were 35 cases in the muscle and bone assessment model manipulation group, including 12 males and 23 females;The age was 27 to 48 years old with an average of (37.77±7.63) years old. The course of disease was 35 to 180 days with an average of (83.68±69.01) days. The patients were treated with manual therapy under the guidance of muscle and bone assessment model, twice a week for 4 weeks. There were 34 cases in the two step seven gimmick group including 12 males and 22 females;The age was 26 to 49 years old with an average of (37.59±7.43) years old;The course of disease was 40 to 175 days with an average of (82.15±68.87) days. The patients were treated with two step seven gimmick method, 2 times a week, for 4 weeks. The visual analogue scale (VAS) and Oswestry disability index (Oswestry disability index, ODI) questionnaire, muscle tension and lumbar spine angle and the straight leg-raising activities were compared between two groups before and 4 weeks after treatment.
RESULTS:
The VAS of the muscle and bone assessment model manipulation group and the two step seven gimmick group(6.51±0.61) and (6.62±0.56) before treatment decreased to 2.40±0.81 and 3.18±0.78 after 4 weeks of treatment, respectively, and the muscle and bone assessment model manipulation group was significantly lower than the two step seven gimmick group (P<0.01). The ODI of the muscle and bone assessment model manipulation group and the two step seven gimmick group were (64.57±5.11) and (65.02±5.18) before treatment, decreased to (18.60±2.27) and (24.70±2.14) after 4 weeks of treatment, and the ODI of the muscle and bone assessment model manipulation group was significantly lower than that of the two step seven gimmick group (P<0.01). Before the treatment, side erector spinae, gluteus medius, and gastrocnemius muscle tension were (59.95±2.60), (62.59±2.51), (49.97±2.01) in the muscle and bone assessment model manipulation group and (60.39±3.84), (62.47±3.27), (49.55±1.27) in the two step seven gimmick group;After 4 weeks of treatment, the muscle tension of erector spinae, gluteus medius and gastrocnemius on the affected side were (56.58±2.71), (60.44±2.31) and (49.19±1.57) in the muscle and bone assessment model manipulation group, (58.28±3.79), (60.11±2.87), (48.55±0.90) in the two step seven gimmick group, the differences had statistical significance before and after treatment of two groups(P<0.01). The muscle and bone assessment model manipulation group was better than the two step seven gimmick group in improving the erector spinae muscle tension on the affected side (P<0.05), and there was no significant difference in the rest (P>0.05). Before the treatment, lumbar proneness, stretch, subject to lateral flexion and lateral angle of the straight leg-raising on the affected side were (46.00±8.89)°, (13.57±3.75)°, (12.29±3.50) °, (43.71±7.98) ° in the muscle and bone assessment model manipulation group, (45.14±6.24) °, (12.23±3.75) °, (12.66±2.98) ° and (44.18±3.50) ° in the two step seven gimmick group. After 4 weeks of treatment, the angles of lumbar flexion, extension, flexion on the affected side and straight leg raising on the affected side were (76.29±4.43) °, (20.00±1.71) °, (22.43±2.81) °, (70.41±7.59) ° in the muscle and bone assessment model manipulation group, and (75.75±6.38) °, (16.43±3.36) °, (20.19±3.52) °, (65.42±6.15) ° in the two step seven gimmick group. The difference had statistical significance before and after treatment in two groups(P<0.01), a comparison between groups, after 4 weeks of treatment, the angles of lumbar flexion and extension, affected side flexion, and lower limb straight leg elevation in the muscle and bone assessment model manipulation group were better than those in the two step seven gimmick group (P<0.05). Before the treatment, pelvic tilt, lumbar lordosis angle were (2.71±1.01) mm, (37.63±3.35) ° in the muscle and bone assessment model manipulation group, and (2.69±0.97) mm, (36.98±3.73) ° in the two step seven gimmick group;After 4 weeks of treatment, the pelvic tilt and lumbar lordosis angle were (0.84±0.36) mm and (41.64±2.96) ° in the muscle and bone assessment model manipulation group, and those in the method of two step seven gimmick group were (1.18±0.75) mm and (41.70±3.14) °. There were significant differences before and after treatment in both groups (P<0.01), and the improvement of pelvic tilt in the muscle and bone assessment model manipulation group was better than that in the method of two step seven gimmick group after 4 weeks of treatment (P<0.05).
CONCLUSION
The manipulation under the guidance of the muscle and bone assessment model can effectively improve the pain and dysfunction of LDH patients, and has a better effect than the two-step seven-method manipulation group in improving the muscle tension, lumbar motion function and posture.
Humans
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Male
;
Female
;
Intervertebral Disc Displacement/physiopathology*
;
Middle Aged
;
Adult
;
Lumbar Vertebrae
5.Patient-Reported Outcomes of Postoperative NSCLC Patients with or without Staged Chinese Herb Medicine Therapy during Adjuvant Chemotherapy (NALLC 2): A Randomized, Double-Blind, Placebo-Controlled Trial.
Yi-Lu ZHANG ; Li-Jing JIAO ; Ya-Bin GONG ; Jian-Fang XU ; Jian NI ; Xiao-Yong SHEN ; Jie ZHANG ; Di ZHOU ; Cheng-Xin QIAN ; Qin WANG ; Jia-Lin YAO ; Wen-Xiao YANG ; Ling-Zi SU ; Li-Yu WANG ; Jia-Qi LI ; Yi-Qin YAO ; Yuan-Hui ZHANG ; Yi-Chao WANG ; Zhi-Wei CHEN ; Ling XU
Chinese journal of integrative medicine 2024;30(11):963-973
OBJECTIVE:
To investigate whether the combination of chemotherapy with staged Chinese herbal medicine (CHM) therapy could enhance health-related quality of life (QoL) in non-small-cell lung cancer (NSCLC) patients and prolong the time before deterioration of lung cancer symptoms, in comparison to chemotherapy alone.
METHODS:
A prospective, double-blind, randomized, controlled trial was conducted from December 14, 2017 to August 28, 2020. A total of 180 patients with stage I B-IIIA NSCLC from 5 hospitals in Shanghai were randomly divided into chemotherapy combined with CHM (chemo+CHM) group (120 cases) or chemotherapy combined with placebo (chemo+placebo) group (60 cases) using stratified blocking randomization. The European Organization for Research and Treatment of Cancer (EORTC) Quality-of-Life-Core 30 Scale (QLQ-C30) was used to evaluate the patient-reported outcomes (PROs) during postoperative adjuvant chemotherapy in patients with early-stage NSCLC. Adverse events (AEs) were assessed in the safety analysis.
RESULTS:
Out of the total 180 patients, 173 patients (116 in the chemo+CHM group and 57 in the chemo+placebo group) were included in the PRO analyses. The initial mean QLQ-C30 Global Health Status (GHS)/QoL scores at baseline were 57.16 ± 1.64 and 57.67 ± 2.25 for the two respective groups (P>0.05). Compared with baseline, the chemo+CHM group had an improvement in EORTC QLQ-C30 GHS/QoL score at week 18 [least squares mean (LSM) change 17.83, 95% confidence interval (CI) 14.29 to 21.38]. Conversely, the chemo+placebo group had a decrease in the score (LSM change -13.67, 95% CI -22.70 to -4.63). A significant between-group difference in the LSM GHS/QoL score was observed, amounting to 31.63 points (95% CI 25.61 to 37.64, P<0.001). The similar trends were observed in physical functioning, fatigue and appetite loss. At week 18, patients in the chemo+CHM group had a higher proportion of improvement or stabilization in GHS/QoL functional and symptom scores compared to chemo+placebo group (P<0.001). The median time to deterioration was longer in the chemo+CHM group for GHS/QoL score [hazard ratio (HR)=0.33, 95% CI 0.23 to 0.48, P<0.0010], physical functioning (HR=0.43, 95% CI 0.25 to 0.75, P=0.0005), fatigue (HR=0.47, 95% CI 0.30 to 0.72, P<0.0001) and appetite loss (HR=0.65, 95% CI 0.42 to 1.00, P=0.0215). The incidence of AEs was lower in the chemo+CHM group than in the chemo+placebo group (9.83% vs. 15.79%, P=0.52).
CONCLUSION
The staged CHM therapy could help improve the PROs of postoperative patients with early-stage NSCLC during adjuvant chemotherapy, which is worthy of further clinical research. (Registry No. NCT03372694).
Humans
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Carcinoma, Non-Small-Cell Lung/surgery*
;
Male
;
Middle Aged
;
Female
;
Lung Neoplasms/pathology*
;
Double-Blind Method
;
Drugs, Chinese Herbal/therapeutic use*
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Chemotherapy, Adjuvant
;
Patient Reported Outcome Measures
;
Quality of Life
;
Aged
;
Postoperative Period
;
Prospective Studies
6.Predictive Analysis of Quality Markers of Abrus cantoniensis Hance Based on Plant Metabolomics and Network Pharmacology
Yueyang XU ; Junjie SHI ; Lihua PENG ; Biyan FANG ; Weixuan CHEN ; Jinle CHENG
World Science and Technology-Modernization of Traditional Chinese Medicine 2023;25(6):1972-1986
Objective To analyze the secondary metabolites of Abrus cantoniensis Hance based on plant metabolomics,and the quality marker(Q-marker)of Abrus cantoniensis Hance by multivariate statistics and network pharmacology prediction.Methods The chemical constituents of 11 batches of Abrus cantoniensis Hance were analyzed by UPLC-Q-TOF-MS methods established and their common components were confirmed.At the same time,cluster analysis(HCA),principal component analysis(PCA)and partial least squares discriminant analysis(OPLS-DA)were carried out to identify the main differential components that caused the classification of the multi-batch medicinal materials of Abrus cantoniensis Hance.Then,the network of"core components-core target-core pathway"was constructed through network pharmacology to screen and predict the potential Q-marker of Abrus cantoniensis Hance,and molecular docking verification was applied to further predict the activity.Results 39 common components were identified in 11 batches of Abrus cantoniensis Hance,mainly containing triterpenoid saponins,flavonoids,alkaloids,etc.HCA and PCA analysis showed that 11 batches of Abrus cantoniensis Hance were divided into 4 categories,and OPLS-DA analysis showed that 9 chemical components played an important role in the classification.The results of network pharmacology analysis showed that the above 9 components which acted on 166 targets were active components,and 29 core targets were obtained by protein interaction(PPI)screening.Among them,four chemical components,Abrine,Hypaphorine,SoyasaponinⅠ and Arginine,were highly correlated with the core targets.Combined with the concept of Q-marker and molecular docking results,it was preliminarily predicted that Abrine and Hypaphorine would be the Q-markers of Abrus cantoniensis Hance.Conclusion The Q-marker of Abrus cantoniensis Hance can be predicted and analyzed by plant metabolomics combined with multivariate statistics and network pharmacology.This study provided data reference for the quality control and evaluation of Abrus cantoniensis Hance and research ideas for further scientific development of Abrus cantoniensis Hance.
7.Clinical Effect of Shugan Hewei Prescription Combined with Vonoprazan on Refractory Gastroesophageal Reflux Disease Due to Qi Depression and Phlegm Obstruction
Mei QI ; Yue ZHOU ; Mengyuan ZHANG ; Yi WANG ; Hongwei WANG ; Qinwei ZHENG ; Shengquan FANG
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(24):146-154
ObjectiveTo evaluate the clinical efficacy and adverse effects of Shugan Hewei prescription combined with vonoprazan in the treatment of refractory gastroesophageal reflux disease (RGERD) due to qi depression and phlegm obstruction. MethodEighty RGERD patients who met the inclusion criteria underwent 24-hour pH impedance and high-resolution esophageal manometry and electronic gastroscopy. The 80 patients were randomly assigned to an observation group (Shugan Hewei prescription, one bag each time, twice a day + vonoprazan, 20 mg each time, once a day) and a control group (vonoprazan, 20 mg each time, once a day) by the random number table method. The treatment in both groups lasted for 4 weeks. The clinical efficacy was examined. The scores of TCM symptoms (pharyngeal discomforts such as phlegm obstruction, retrosternal discomfort, and belching), somatic symptoms, quality of life, and improvement of esophageal mucosa under gastroscopy were observed in both groups before treatment and after treatment for 2 and 4 weeks. ResultSeventy-five patients completed the trial were included in this study, including 38 patients in the observation group and 37 patients in the control group. The total response rate in the observation group was 89.47%(34/38), which was higher than that (62.16%,23/37) in the control group (χ2=13.014, P<0.01). After treatment, the scores of esophageal mucous membrane, reflux disease symptoms, TCM symptoms, gastroesophageal reflux disease health-related quality of life scale (GERD-HRQL), and somatic self-rating scale (SSS) decreased in both groups(P<0.05). Moreover, the observation group outperformed the control group in alleviating heartburn, acid reflux, throat discomforts, midnight coughing, nausea and dry vomiting, mucousy mouth, and insomnia in the patients with GERD (P<0.05,P<0.01). However, the two groups showed no statistically significant differences in the improvement of esophageal mucosa after treatment. ConclusionThe combination of Shugan Hewei prescription with vonoprazan was superior to vonoprazan alone in treating RGERD regarding clinical symptoms, physical signs, quality of life, and somatic symptoms, without causing obvious adverse effects.
8.The historical development of Shanghai herbal paste
Qunqun ZHANG ; Fang QIAN ; Lingling XU ; Ruoxi ZHANG ; Hua NIAN
Journal of Pharmaceutical Practice 2023;41(7):408-410
As the "star product" of Shanghai, Shanghai herbal paste has played an irreplaceable role both in the treatment of diseases and nurturing health. The concept of Shanghai regional culture, Shanghai style Chinese medicine and Shanghai herbal paste were introduced by the combination of literature search and practical experience. The historical developments of Shanghai herbal paste were summarized in order to understand Shanghai herbal paste comprehensively and provide a historical and empirical basis for the inheritance and innovation of Shanghai herbal paste.
9.Features of different contemporary acupuncture and moxibustion schools in the treatment of post-stroke spastic paralysis.
Ou-Ping LIAO ; Xin-Yun HUANG ; Ci WANG ; Li-Fang ZHOU ; Shu-Yun JIANG ; Yan-Li ZHOU ; Jing LI
Chinese Acupuncture & Moxibustion 2023;43(9):1081-1085
Acupuncture and moxibustion has certain advantages in the treatment of post-stroke spastic paralysis,but the treatment methods and diagnosis and treatment ideas are complicated. This paper sortes out the representative contemporary acupuncture and moxibustion schools in the treatment of post-stroke spastic paralysis, analyzes their academic origins,summarizes and compares the theory,acupoint selection and technique characteristics of different schools in the diagnosis and treatment of this disease,so as to provide some references for guiding optimal treatment schemes selection in clinic.
Humans
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Moxibustion
;
Muscle Spasticity/therapy*
;
Acupuncture Therapy
;
Schools
;
Acupuncture Points
;
Stroke/therapy*
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
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beta-Thalassemia/genetics*
;
alpha-Thalassemia/genetics*
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Hemoglobinopathies/genetics*
;
China/epidemiology*
;
High-Throughput Nucleotide Sequencing


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