1.Consistent Detection of Aquaporin-4 Antibodies:A Comparative Analysis Between Fixed and Live Cell-Based Assays
Jing WANG ; Linge WANG ; Xiaolin YANG ; Zhizhong LI ; Jinyu JIANG ; Qiao XU ; Siyuan HUANG ; Qing FU ; Yang YANG ; Rongrong ZHANG ; Lin YANG ; Ai CHEN ; Xiaopeng ZENG ; Ke XU ; Peng ZHENG ; Xinyue QIN ; Jinzhou FENG
Journal of Clinical Neurology 2026;22(2):212-220
Background:
and Purpose Live cell-based assays (LCBA) are increasingly used for serological antibody detection due to their ability to preserve antigen conformation, offering moderately higher sensitivity than fixed cell-based assays. However, the clinical necessity of prioritizing LCBA for the detection of aquaporin-4 immunoglobulin G (AQP4-IgG) in neuromyelitis optica spectrum disorder (NMOSD) remains unclear, especially when compared to its established role in diagnosing myelin oligodendrocyte glycoprotein antibody-associated disease.
Methods:
We compared the performance of live cell-based assays using immunofluorescence (LCBA-IF) and fixed cell-based assays using immunofluorescence (FCBA-IF) in detecting AQP4-IgG in 90 cases of NMOSD meeting 2015 International Panel for Neuromyelitis Optica Diagnosis criteria, alongside 40 controls. Additionally, we further investigated the relationship between AQP4-IgG titers as measured by LCBA-IF and FCBA-IF and clinical parameters in NMOSD patients.
Results:
Results showed 96.9% agreement between LCBA-IF and FCBA-IF (Cohen’s κ=0.935), with a strong Spearman correlation (0.977, p<0.001). Both methods demonstrated 100% specificity, with LCBA-IF showing slightly higher sensitivity compared to FCBA-IF. Within LCBAIF-tested groups, statistically significant differences in annualized relapse rates were observed across all pairwise comparisons (low-titer vs. moderate-titer, low-titer vs. high-titer, and moderate-titer vs. high-titer; all p<0.050). However, this association reached statistical significance in some FCBA-IF-tested groups.
Conclusions
Overall, there is a strong concordance between LCBA-IF and FCBA-IF in detecting AQP4-IgG, where LCBA-IF shows slightly higher sensitivity. Furthermore, there is a potential link between elevated AQP4-IgG titers and an increased risk of relapse, and this correlation may appear more pronounced when using LCBA-IF.
2.Effect of Tongbian Decoction (通便汤) on the VAPB-PTPIP51 Complex and Autophagy of Interstitial Cells of Cajal in the Colon of Slow Transit Constipation Model Rats
Chuyue WANG ; Jiacheng LI ; Yingqi YANG ; Sicheng SHEN ; Zhiyang CHEN ; Zhizhong XU ; Bensheng WU ; Meiyao CHEN ; Ziwei XIONG ; Jinhui GU ; Xiaopeng WANG
Journal of Traditional Chinese Medicine 2026;67(9):985-993
ObjectiveTo explore the possible mechanism of Tongbian Decoction (通便汤, TD) in treating slow transit constipation (STC). MethodsTwenty-four SD rats were randomly divided into normal group, model group, TD group, and mosapride group, with 6 rats per group. Except for the normal group, STC models were established by intragastric administration of loperamide hydrochloride combined with normal saline. On the day following successful model establishment, rats in the TD group received 18.63 g·kg⁻¹ of TD by gavage, while those in the mosapride group received 1.605 mg·d⁻¹ of mosapride, and those in the normal group and the model group received 10 ml·kg⁻¹ of normal saline by gavage. All treatments were administered once daily for 7 consecutive days. Twenty-four hours after the last administration, fecal pellet number and fecal water content were measured. After intragastric administration of a 10% activated charcoal suspension, the small intestinal transit rate was calculated 30 minutes later. Serum levels of gastrin (GAS) and motilin (MTL) were measured by ELISA. Colonic histopathology was observed by HE staining, and mucus secretion by Alcian blue-periodic acid-Schiff (AB-PAS) staining. Ultrastructure of colon tissue was examined using transmission electron microscopy. Protein expression levels of C-kit, stem cell factor (SCF), autophagy-related protein 5 (ATG5), Beclin1, vesicle-associated membrane protein B (VAPB), and protein tyrosine phosphatase interacting protein 51 (VAPB-PTPIP51) were measured by Western Blot, and the mRNA levels were detected by real-time PCR. Immunohistochemistry was used to detect SCF, C-kit, Beclin1, and ATG5 expression. The calcium content in colon tissue was determined by ELISA. ResultsCompared to the normal group, rats in the model group showed significantly reduced fecal pellet number, fecal water content, small intestinal transit rate, and serum GAS and MTL levels (P<0.01); the number of goblet cells decreased, and the mucosal and muscular layers of the colon became thinner; mRNA and protein expression levels of ATG5 and Beclin1 in colon tissue significantly increased, while calcium content decreased (P<0.05 or P<0.01); and electron microscopy revealed vacuolar degeneration and increased autophagosomes in colonic cells. Compared to the model group, both TD group and mosapride group showed increased fecal pellet number, fecal water content, small intestinal transit rate, serum GAS and MTL levels, and colonic calcium content, along with decreased Beclin1 and ATG5 protein levels (P<0.05 or P<0.01); the mucosal thickness and goblet cell number increased significantly, and autophagosomes decreased; in the TD group, ATG5 and Beclin1 mRNA levels decreased; in the mosapride group, SCF, VAPB, and PTPIP51 mRNA levels increased, while Beclin1 mRNA decreased (P<0.05 or P<0.01). Compared to the mosapride group, the TD group showed higher fecal pellet number, fecal water content, serum GAS levels, colonic calcium content, and C-kit expression, along with lower ATG5 and Beclin1 levels (P<0.05 or P<0.01). ConclusionTD may improve constipation symptoms by upregulating the VAPB-PTPIP51 complex during mitochondria-endoplasmic reticulum interactions, reducing autophagy of interstitial cells of Cajal, and promoting intestinal motility.
3.Effect of Tongbian Decoction (通便汤) on the VAPB-PTPIP51 Complex and Autophagy of Interstitial Cells of Cajal in the Colon of Slow Transit Constipation Model Rats
Chuyue WANG ; Jiacheng LI ; Yingqi YANG ; Sicheng SHEN ; Zhiyang CHEN ; Zhizhong XU ; Bensheng WU ; Meiyao CHEN ; Ziwei XIONG ; Jinhui GU ; Xiaopeng WANG
Journal of Traditional Chinese Medicine 2026;67(9):985-993
ObjectiveTo explore the possible mechanism of Tongbian Decoction (通便汤, TD) in treating slow transit constipation (STC). MethodsTwenty-four SD rats were randomly divided into normal group, model group, TD group, and mosapride group, with 6 rats per group. Except for the normal group, STC models were established by intragastric administration of loperamide hydrochloride combined with normal saline. On the day following successful model establishment, rats in the TD group received 18.63 g·kg⁻¹ of TD by gavage, while those in the mosapride group received 1.605 mg·d⁻¹ of mosapride, and those in the normal group and the model group received 10 ml·kg⁻¹ of normal saline by gavage. All treatments were administered once daily for 7 consecutive days. Twenty-four hours after the last administration, fecal pellet number and fecal water content were measured. After intragastric administration of a 10% activated charcoal suspension, the small intestinal transit rate was calculated 30 minutes later. Serum levels of gastrin (GAS) and motilin (MTL) were measured by ELISA. Colonic histopathology was observed by HE staining, and mucus secretion by Alcian blue-periodic acid-Schiff (AB-PAS) staining. Ultrastructure of colon tissue was examined using transmission electron microscopy. Protein expression levels of C-kit, stem cell factor (SCF), autophagy-related protein 5 (ATG5), Beclin1, vesicle-associated membrane protein B (VAPB), and protein tyrosine phosphatase interacting protein 51 (VAPB-PTPIP51) were measured by Western Blot, and the mRNA levels were detected by real-time PCR. Immunohistochemistry was used to detect SCF, C-kit, Beclin1, and ATG5 expression. The calcium content in colon tissue was determined by ELISA. ResultsCompared to the normal group, rats in the model group showed significantly reduced fecal pellet number, fecal water content, small intestinal transit rate, and serum GAS and MTL levels (P<0.01); the number of goblet cells decreased, and the mucosal and muscular layers of the colon became thinner; mRNA and protein expression levels of ATG5 and Beclin1 in colon tissue significantly increased, while calcium content decreased (P<0.05 or P<0.01); and electron microscopy revealed vacuolar degeneration and increased autophagosomes in colonic cells. Compared to the model group, both TD group and mosapride group showed increased fecal pellet number, fecal water content, small intestinal transit rate, serum GAS and MTL levels, and colonic calcium content, along with decreased Beclin1 and ATG5 protein levels (P<0.05 or P<0.01); the mucosal thickness and goblet cell number increased significantly, and autophagosomes decreased; in the TD group, ATG5 and Beclin1 mRNA levels decreased; in the mosapride group, SCF, VAPB, and PTPIP51 mRNA levels increased, while Beclin1 mRNA decreased (P<0.05 or P<0.01). Compared to the mosapride group, the TD group showed higher fecal pellet number, fecal water content, serum GAS levels, colonic calcium content, and C-kit expression, along with lower ATG5 and Beclin1 levels (P<0.05 or P<0.01). ConclusionTD may improve constipation symptoms by upregulating the VAPB-PTPIP51 complex during mitochondria-endoplasmic reticulum interactions, reducing autophagy of interstitial cells of Cajal, and promoting intestinal motility.
4.Correlations of artificial intelligence measured parameters on anteroposterior and lateral spinal X-ray films with severity of adolescent idiopathic scoliosis
Jinlong LIU ; Danyang SU ; Zhen BAI ; Wenhao GENG ; Fei LI ; Qiuju MIAO ; Xiaopeng YANG
Chinese Journal of Medical Imaging Technology 2025;41(5):778-782
Objective To observe the correlations of artificial intelligence(AI)measured parameters on anteroposterior and lateral spinal X-ray films with the severity of adolescent idiopathic scoliosis(AIS).Methods Totally 1 786 AIS patients were retrospectively enrolled.Parameters including Cobb angle(CA),coronal balance distance(CBD),T1 slope(T1S),pelvic tilt(PT),sacral slope(SS),apical vertebral translation(AVT),thoracic trunk shift(TTS),thoracic kyphosis(TK)and sagittal vertical axis(SVA)on anteroposterior and lateral spinal X-ray films were measured using uAI DR scoliosis analysis system.The severity of AIS was evaluated according to CA,and the correlations between other parameters and the severity of AIS were explored.The above parameters were compared under different severity levels and coronal/sagittal equilibrium states.Multivariate logistic regression analysis was performed to screen the independent impact factors on the severity of AIS.Results Significant differences of the above parameters were found among different severity levels except for SVA(all P<0.001).With the aggravation of AIS,CA,CBD,AVT and TTS increased successively(all P<0.001).T1S of severe AIS was higher than that of mild and moderate AIS(both P<0.001),PT and SS of moderate and severe AIS were all bigger,while their TK were smaller than those of mild AIS(all P<0.001).Significant differences of CA,T1S,PT,SS,AVT,TTS and TK were found between coronal balanced and imbalanced AIS(all P<0.05),while of TK were found between sagittal balanced and unbalanced AIS(P=0.026).CBD,T1S,PT,SS,AVT and TTS were all positively correlated(r,=0.136-0.606,all P<0.001),while TK was negatively correlated(r,=—0.404,P<0.001)with the severity of AIS.T1S,AVT and TTS were all independent impact factors of the severity of AIS(all P<0.001).Conclusion Among AI measured parameters on anteroposterior and lateral spinal X-ray films,CBD,T1S,PT,SS,AVT and TTS were positively correlated,while TK was negatively correlated with the severity of AIS.
5.Effect of the thicknesses of different reconstruction layer and the ROI thicknesses on the measurement of BMD value of QCT
Jinlong LIU ; Danyang SU ; Haoran ZHANG ; Yuanbo MA ; Qiuju MIAO ; Zhen BAI ; Xiaopeng YANG
China Medical Equipment 2025;22(1):19-23
Objective:To assess the effect of using different thicknesses of reconstruction layer and different thicknesses of region of interest (ROI) on the results of vertebral bone mineral density (BMD) values that were measured by quantitative computed tomography (QCT). Methods:A total of 100 patients who underwent QCT screening for opportunistic osteoporosis between May and September 2021 at the First Affiliated Hospital of Zhengzhou University were retrospectively collected. Images that the thicknesses of QCT reconstruction layer were respectively 1 and 5 mm were transferred to the QCT Pro workstation,and ROI thicknesses were adjusted to 5,7,and 9 mm,respectively. The average BMD values of QCT measurements were recorded under different thicknesses of reconstruction layer and different ROI thicknesses. Then,the effects of the choose of different thicknesses of reconstruction layer and the different ROI thicknesses on BMD values that were measured by QCT were analyzed. Results:The average BMD values of 1 mm and 5 mm thicknesses of reconstruction layer were respectively (117.41±45.97) mg/cm3 and (118.77±44.84) mg/cm3 when ROI thickness was 5 mm,with a statistically significant difference (t=-2.283,P<0.05). The average BMD values of 1 mm and 5 mm thicknesses of reconstruction layer were respectively (116.38±46.06) mg/cm3 and (119.06±44.55) mg/cm3 when the ROI thickness was 7mm,and the difference was statistically significant (t=-3.280,P<0.05). The average BMD values of 1 mm and 5 mm thicknesses of reconstruction layer were respectively (116.25±45.36) mg/cm3 and (120.12±44.10) mg/cm3 when the ROI thickness was 9 mm,and the difference was statistically significant (t=-5.841,P<0.001). The differences in BMD measurement values among 5,7 and 9 mm ROI thicknesses were not statistically significant when the thicknesses of reconstruction layer were respectively 1 and 5 mm. Conclusion:There is an effect of the thickness of QCT reconstruction layer on average BMD measurement values,and 1 mm thickness of reconstruction layer is more suitable to clinical application,while there is not significant effect in ROI thickness on average BMD measurement value of QCT. In clinical application,it is feasible to adjust ROI thickness according to actual situation so as to avoid the effect caused by some factors such as fracture or vertebral implants.
6.Correlations of artificial intelligence measured parameters on anteroposterior and lateral spinal X-ray films with severity of adolescent idiopathic scoliosis
Jinlong LIU ; Danyang SU ; Zhen BAI ; Wenhao GENG ; Fei LI ; Qiuju MIAO ; Xiaopeng YANG
Chinese Journal of Medical Imaging Technology 2025;41(5):778-782
Objective To observe the correlations of artificial intelligence(AI)measured parameters on anteroposterior and lateral spinal X-ray films with the severity of adolescent idiopathic scoliosis(AIS).Methods Totally 1 786 AIS patients were retrospectively enrolled.Parameters including Cobb angle(CA),coronal balance distance(CBD),T1 slope(T1S),pelvic tilt(PT),sacral slope(SS),apical vertebral translation(AVT),thoracic trunk shift(TTS),thoracic kyphosis(TK)and sagittal vertical axis(SVA)on anteroposterior and lateral spinal X-ray films were measured using uAI DR scoliosis analysis system.The severity of AIS was evaluated according to CA,and the correlations between other parameters and the severity of AIS were explored.The above parameters were compared under different severity levels and coronal/sagittal equilibrium states.Multivariate logistic regression analysis was performed to screen the independent impact factors on the severity of AIS.Results Significant differences of the above parameters were found among different severity levels except for SVA(all P<0.001).With the aggravation of AIS,CA,CBD,AVT and TTS increased successively(all P<0.001).T1S of severe AIS was higher than that of mild and moderate AIS(both P<0.001),PT and SS of moderate and severe AIS were all bigger,while their TK were smaller than those of mild AIS(all P<0.001).Significant differences of CA,T1S,PT,SS,AVT,TTS and TK were found between coronal balanced and imbalanced AIS(all P<0.05),while of TK were found between sagittal balanced and unbalanced AIS(P=0.026).CBD,T1S,PT,SS,AVT and TTS were all positively correlated(r,=0.136-0.606,all P<0.001),while TK was negatively correlated(r,=—0.404,P<0.001)with the severity of AIS.T1S,AVT and TTS were all independent impact factors of the severity of AIS(all P<0.001).Conclusion Among AI measured parameters on anteroposterior and lateral spinal X-ray films,CBD,T1S,PT,SS,AVT and TTS were positively correlated,while TK was negatively correlated with the severity of AIS.
7.Effect of the thicknesses of different reconstruction layer and the ROI thicknesses on the measurement of BMD value of QCT
Jinlong LIU ; Danyang SU ; Haoran ZHANG ; Yuanbo MA ; Qiuju MIAO ; Zhen BAI ; Xiaopeng YANG
China Medical Equipment 2025;22(1):19-23
Objective:To assess the effect of using different thicknesses of reconstruction layer and different thicknesses of region of interest (ROI) on the results of vertebral bone mineral density (BMD) values that were measured by quantitative computed tomography (QCT). Methods:A total of 100 patients who underwent QCT screening for opportunistic osteoporosis between May and September 2021 at the First Affiliated Hospital of Zhengzhou University were retrospectively collected. Images that the thicknesses of QCT reconstruction layer were respectively 1 and 5 mm were transferred to the QCT Pro workstation,and ROI thicknesses were adjusted to 5,7,and 9 mm,respectively. The average BMD values of QCT measurements were recorded under different thicknesses of reconstruction layer and different ROI thicknesses. Then,the effects of the choose of different thicknesses of reconstruction layer and the different ROI thicknesses on BMD values that were measured by QCT were analyzed. Results:The average BMD values of 1 mm and 5 mm thicknesses of reconstruction layer were respectively (117.41±45.97) mg/cm3 and (118.77±44.84) mg/cm3 when ROI thickness was 5 mm,with a statistically significant difference (t=-2.283,P<0.05). The average BMD values of 1 mm and 5 mm thicknesses of reconstruction layer were respectively (116.38±46.06) mg/cm3 and (119.06±44.55) mg/cm3 when the ROI thickness was 7mm,and the difference was statistically significant (t=-3.280,P<0.05). The average BMD values of 1 mm and 5 mm thicknesses of reconstruction layer were respectively (116.25±45.36) mg/cm3 and (120.12±44.10) mg/cm3 when the ROI thickness was 9 mm,and the difference was statistically significant (t=-5.841,P<0.001). The differences in BMD measurement values among 5,7 and 9 mm ROI thicknesses were not statistically significant when the thicknesses of reconstruction layer were respectively 1 and 5 mm. Conclusion:There is an effect of the thickness of QCT reconstruction layer on average BMD measurement values,and 1 mm thickness of reconstruction layer is more suitable to clinical application,while there is not significant effect in ROI thickness on average BMD measurement value of QCT. In clinical application,it is feasible to adjust ROI thickness according to actual situation so as to avoid the effect caused by some factors such as fracture or vertebral implants.
8.Correlation between indocyanine green fluorescence imaging and the positive rate of lymph node metastasis in radical cystectomy
Hao WANG ; Guowang DU ; Yurui ZHANG ; Xiaopeng WANG ; Fengshuo YANG ; Lifeng LIU
Journal of Modern Urology 2025;30(9):760-764
Objective To investigate the correlation between indocyanine green(ICG)fluorescence imaging and lymph node metastasis of bladder cancer and its application value.Methods The clinicopathological data of 35 patients with bladder cancer(T1-T4aNxM0)treated in our hospital during Jun.2019 and Mar.2023 were collected.All patients underwent ICG submucous injection,and those with successful imaging received lymph node dissection under fluorescent guidance.After that,the remaining lymph tissue was cleared according to the standard lymph node dissection range,and the resected lymph tissue was subassembled for examination.Patients with non-imaging underwent standard pelvic lymph node dissection according to the routine procedure.Intraoperative lymph node imaging areas were recorded,and postoperative lymph node pathological data were collected.The correlation between fluorescence imaging patterns and lymph node metastasis in patients with different stages of bladder cancer was analyzed with correlation coefficients.Results The ICG fluorescence imaging rate was 91.43%(32/35),and there was no statistically significant difference in the imaging rate among patients with different stages of bladder cancer(P>0.05).The fluorescence imaging range was significantly correlated with the stage(C=0.351,P=0.034).There was a significant correlation between the imaging range and lymph node metastasis in early-stage patients(C=0.619,P=0.022),but there was no significant difference in the lymph node metastasis rate in advanced patients with different imaging range(P>0.05).In patients with full staging,the sensitivity of lymph nodes to predict metastasis was 60.00%(6/10),and the negative predictive value was 84.62%(22/26).In early-stage patients,the sensitivity and negative predictive value were 50.00%(1/2)and 93.75%(15/16),respectively.In advanced-stage patients,they were 62.50%(5/8)and 70.00%(7/10),respectively.Conclusion ICG fluorescence imaging rate of tracing lymph node metastasis is high,and the imaging range is significantly related to the tumor stage.For patients with early-stage(T1-T2)bladder cancer,the range of imaging helps to predict the risk of lymph node metastasis and guide the extent of lymph node dissection.Resection of multi-area imaged lymph nodes can comprehensively evaluate the lymphatic metastasis status of early-stage patients.
9.Kidney transplantation in low-age,low-weight children:A report of two cases
Zhao ZHAO ; Weiyu ZHANG ; Wenbo YANG ; Yongjie ZHANG ; Xiaopeng ZHANG ; Huiying ZHAO ; Gang ZHOU ; Qiang WANG
Journal of Peking University(Health Sciences) 2025;57(4):803-807
Kidney transplantation is widely recognized as the optimal treatment for children with end-stage renal disease(ESRD),offering significant improvements in growth,development,and long-term quality of life compared with prolonged dialysis.However,kidney transplantation in low-age(<5 years old)and low-weight(<15 kg)children presents significant clinical challenges due to their delicate vas-cular structures,limited surgical space,and complex perioperative management.This report presents two cases of kidney transplantation in low-age,low-weight children performed at Peking University People's Hospital.Case 1:a 2-year-3-month-old boy(8.8 kg),presenting a preoperative serum creatinine of 248μmol/L post-dialysis and the estimated glomerular filtration rates(eGFR)of 35.17 mL/(min·1.73 m2).Case 2:a 3-year-8-month-old girl(11.25 kg),presenting a preoperative creatinine of 281 μmol/L post-dialysis and the eGFR of 22.63 mL/(min·1.73 m2).Both recipients underwent transplantation via the extraperitoneal approach,with end-to-side anastomosis of the donor renal artery and vein to the recipient's common iliac artery and vein,respectively.The ureters were anastomosed to the bladder using the tunnel technique,and double-J stents were placed intraoperatively.The surgeries were uneventful,and both pa-tients exhibited rapid recovery of renal function.Postoperatively,serum creatinine levels decreased to 26μmol/L(Case 1)and 39 μmol/L(Case 2)by the third day,with the eGFR reaching 245.23 mL/(min·1.73 m2)and 164.12 mL/(min·1.73 m2),respectively.No complications,such as vascular thrombosis,ureteral stenosis,or abdominal compartment syndrome were observed during follow-up.A comprehensive literature review was conducted to contextualize these cases within global advancements in pediatric renal transplantation.Current evidence highlights the growing adoption of kidney transplantation for low-age,low-weight children,though debates persist regarding optimal surgical strategies(specifical-ly,the intraperitoneal versus extraperitoneal approaches).This case report underscores the feasibility of the extraperitoneal approach in overcoming anatomical limitations of low-weight pediatric recipients,with distinct advantages including reduced gastrointestinal complications and enhanced accessibility for post-operative ultrasound monitoring.Furthermore,mean arterial pressure(MAP)and central venous pressure(C VP)were systematically monitored intraoperatively to ensure optimal renal blood perfusion and graft viability.Our single-center experience provides valuable insights into surgical strategy selection and peri-operative management for this high-risk population.Nevertheless,larger multicenter studies are warranted to validate long-term outcomes and refine standardized protocols.
10.Ethnic differences in genotype distribution of thalassemia between Han and Li populations in southern Hainan
Yongjing TANG ; Zhixia LI ; Bangruo QI ; Feichen XIU ; Lin YANG ; Qin YANG ; Qinglan TANG ; Xiaopeng LAN ; Yufeng WANG
Chinese Journal of Preventive Medicine 2025;59(9):1540-1545
To analyze the ethnic differences in the genotype distribution of thalassemia between the Han and Li ethnic groups in the Qiongnan region (southern Hainan). A cross-sectional study employing a stratified multistage sampling method was conducted from January 2019 to December 2023. A total of 4 493 high-risk individuals (2 734 Han and 1 759 Li) from southern Hainan (including Sanya, Ledong, Baoting, Lingshui, and other counties) underwent thalassemia genetic testing. The genotype distribution was statistically analyzed. Inter-group comparisons were performed using χ2 test or Fisher′s exact test. The results showed an overall thalassemia positivity rate of 66.70% (2 997/4 493), with carrier, intermediate and major thalassemia rates of 62.01% (2 786/4 493), 3.98% (179/4 493) and 0.71% (32/4 493), respectively. The positivity rates for thalassemia were 87.83% (1 545/1 759) in the Li ethnic group and 53.11% (1 452/2 734) in the Han ethnic group. Among them, the Li ethnic group exhibited significantly higher positivity rates for α-thalassemia (71.12% vs. 40.64%, χ2=398.90, P<0.001) and α/β-compound thalassemia (13.36% vs. 3.33%, χ2=160.06, P<0.001) compared to the Han ethnic group, whereas the Han ethnic group had a higher β-thalassemia rate (9.14% vs. 3.35%, χ2=56.03, P<0.001). Both ethnic groups shared common α-thalassemia alleles (-α 3.7 and -α 4.2), but the -- SEA allele proportion was significantly higher in Han (21.33% vs. 4.34%, χ2=231.45, P<0.001). Six rare -α 21.9 mutations (0.26%) were exclusively identified in the Li ethnic group, whereas none were found in Han. For β-thalassemia, the β CD41-42 allele was predominant in Li (96.60% vs. 71.01%, χ2=77.24, P<0.001), whereas other alleles (β IVS-II-654, β CD71-72, β CD17, and β -28) were more prevalent in Han (11.01%, 6.96%, 4.64%, and 3.19% vs. 1.54%, 0.00%, 0.31%, and 0.62%, respectively),all P<0.05. In conclusion, distinct ethnic disparities in thalassemia genotype distribution are observed in southern Hainan. The Li ethnic group is predominantly characterized by α-thalassemia and α/β-compound genotypes with a predominant β CD41-42 mutation. In contrast, the Han ethnic group displays higher -- SEA proportion and heterogeneous β-thalassemia genotypes.

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