1.Two cases of rare K phenotype caused by the KEL c.715G>T mutation
Jing LI ; Jing ZHANG ; Zhixia CHENG ; Jian DU ; Xiaoling ZHANG
Chinese Journal of Blood Transfusion 2026;39(4):526-533
Objective: To investigate the serological identification and blood group gene sequencing analysis of two rare cases of K
phenotype producing high-frequency antigen antibodies (anti-Ku), and to study the serological interrelationship between K
cells and the high-frequency antigen antibody anti-KL. Methods: Serological methods were used to identify the antigen phenotypes of the ABO, Rh, and Kell blood group systems and to screen for and identify unexpected antibodies in the two patients. The characteristics of the unexpected antibodies were verified by the indirect antiglobulin test (IAT) using papain or dithiothreitol (DTT) -treated screening cells. The titer of anti-Ku was determined via the tube method using DTT-treated plasma. The Kell blood group genotype was determined by gene sequencing. The distinctive antigenicity of K
cells was validated through their reactivity with anti-KL in IAT, and absorption-elution techniques were employed to corroborate the type of anti-KL. Results: Serological findings: Case 1 was blood group O, CCDee; Case 2 was blood group A, CCDee. Both cases exhibited the Kell phenotype: K-k-, Kp (a-b-). High-frequency antigen antibodies were detected in the plasma of both patients. The reactivity of these antibodies was slightly enhanced with papain-treated screening cells but became negative with DTT-treated cells. The anti-Ku (IgG) titer for Case 1 was 64. For Case 2, the anti-Ku (IgM) titer was<1, and the anti-Ku (IgG) titer was 32. Gene sequencing revealed that both cases harbored a homozygous c.715G>T mutation in the KEL gene, corresponding to the genotype KEL02N.24, consistent with the rare K
phenotype. The unique high expression of the Kx antigen on K
cells was confirmed through the antibody characteristics of anti-KL. Absorption-elution techniques demonstrated that K
cells could separate anti-Km and anti-Kx, thereby supporting the classification of anti-KL. Conclusion: Serological and molecular biological assays identified both patients as having the rare Kell-null (K
) phenotype. If such rare blood types go undetected in transfusion medicine, the administration of standard blood products can readily induce the production of high-frequency antigen antibodies such as anti-Ku, potentially leading to a transfusion crisis due to the subsequent difficulty in finding compatible blood. The serological relationship between K
cells and anti-KL clarified the characteristic high expression of the Kx antigen on K
phenotype erythrocytes and concurrently supported the typological features of the rare high-frequency antibody anti-KL. This represents the first such verified report in China.
2.Impacts of thyroid stimulating hormone and thyroid peroxidase antibody on pregnancy outcomes of in vitro fertilization-embryo transfer
WAN Zhonggui ; HONG Mingyun ; TANG Zhixia ; YU Li
Journal of Preventive Medicine 2025;37(3):316-321,324
Objective:
To investigate the effects of thyroid stimulating hormone (TSH) and thyroid peroxidase antibody(TPOAb) on pregnancy outcomes of in vitro fertilization-embryo transfer (IVF-ET).
Methods:
The patients who underwent IVF-ET at the Reproductive Medicine Center of Hefei Maternal and Child Health Care Hospital from December 2019 to November 2023, and had normal free thyroxine and 0.3-<10 mIU/L TSH levels were selected as subjects. The patients were divided into three groups based on TSH levels: 0.3-<2.5 mIU/L, 2.5-4 mIU/L, and >4-<10 mIU/L, and the patients with normal free thyroxine and TSH levels were further divided into TPOAb-positive and TPOAb-negative groups. The biochemical pregnancy rate, clinical pregnancy rate and miscarriage rate were compared among patients with different TSH and TPOAb groups.
Results:
A total of 3 876 patients were recruited, including 830 patients with fresh embryo transfer cycles and 3 046 patients with frozen-thawed embryo transfer cycles. In the patients with fresh embryo transfer cycles, the biochemical pregnancy rate, clinical pregnancy rate and miscarriage rate were 59.16%, 52.77% and 19.41%, respectively. In the patients with frozen-thawed embryo transfer cycles, these rates were 55.52%, 46.98% and 20.27%, respectively. For both groups, there were no statistically significant differences in biochemical pregnancy rate, clinical pregnancy rate and miscarriage rate between TPOAb-positive and TPOAb-negative patients or among the patients with different TSH groups (all P>0.05). Additionally, a follow-up study of 150 patients who had successfully delivered after IVF-ET from 2020 to 2022 with TSH levels of >4-<10 mIU/L showed that no intellectual developmental issues or tendencies toward intellectual developmental disorders were found in their offsprings.
Conclusion
In the context of normal free thyroxine levels, this study did not find any impacts of mildly elevated TSH levels or isolated TPOAb positivity on the pregnancy outcomes of IVF-ET.
3.Application and prospects of mobile health applications in the health management of organ transplant recipients
Ru JI ; Wei YAN ; Zhixia LI ; Zhiping HUANG ; Dianying ZHANG ; Jianxiong CHEN ; Feng HUO
Organ Transplantation 2025;16(3):474-481
With the rapid development of mobile internet technology, mobile health application (mHealth APP) are increasingly widely used in the field of health management and have been proven to play an important role in the management of chronic diseases. Solid organ transplant recipients face complex health management needs after surgery, including postoperative follow-up, medication management, prevention and treatment of complications and comorbidities, and lifestyle adjustment. mHealth APP can provide solid organ transplant recipients with convenient self-management tools. Although some progress has been made in this field, there are still many challenges, such as insufficient user experience, technological dependence, and data security risks. Therefore, this article discusses the development process, main functions and current application status of mHealth APP, and analyzes its advantages in improving the self-management ability of solid organ transplant recipients, promoting doctor-patient communication and reducing the incidence of complications. At the same time, based on the practical experience of author’s team in developing the “TransMate” mHealth APP, we propose the directions that mHealth APPs should focus on in the future, in order to provide more effective support and services for the health management of solid organ transplant recipients.
4.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.
5.Incidence and influencing factors of ocular surface disease among power grid construction workers in plateau: a real-world study
Xinyu YANG ; Yunjing ZHANG ; Huziwei ZHOU ; Quanquan GONG ; Xinyu WANG ; Xiaoyu ZHANG ; Zhixia LI ; Shiming LI ; Shengfeng WANG
Chinese Journal of Experimental Ophthalmology 2025;43(5):443-451
Objective:To analyze the incidence and risk factors of ocular surface disease among power grid construction workers in plateau.Methods:A total of 11 132 construction personnel from the Ngari prefecture-central Tibet power grid interconnection project were included from 2019 to 2020.Baseline characteristics including age, gender, body mass index, developmental and nutritional status, relevant clinical indicators, etc.and follow-up data regarding incidence of ocular surface diseases were obtained from the medical records of Ali interconnection project staff medical station.The altitude of workplace and residence of the study population were obtained from the website (https: //zh-cn.topographic-map.com/legal/).The mean age of the subjects was (36.17±10.48) years, of which 95.33%(10, 612 subjects) were male.The median follow-up time was 1.53 years.The altitude of the residence and workplace were (1 954.77±940.64) and (4 535.09±232.71) meters, respectively.The incidence of ocular surface diseases in groups with different characteristics was calculated.Differential variables for the incidence of ocular surface diseases were screened by univariate Cox proportional hazards regression model.Influencing factors of ocular surface diseases multivariate were explored by Cox proportional hazards model.This study was approved by the Ethics Committee of Peking University Health Science Center (No.IRB00001052-21066).Results:During the follow-up period, the incidence of ocular surface disease was 9.27% (1 032 cases), and the incidence of conjunctivitis and keratitis was 6.58% (733 cases) and 1.80% (200 cases), respectively.Multivariate Cox proportional hazards regression analysis showed that for every 1 000 meters increase in altitude of residence, the risk of ocular surface disease decreased by 15% ( HR[95% CI]: 0.85[0.80~0.91], P<0.001).For every 100 meters increase in altitude of workplace, the risk of ocular surface disease increased by 5% ( HR[95% CI]: 1.04[1.01~1.07], P=0.006).Decreased blood oxygen saturation ( HR[95% CI]: 1.09[1.02~1.16], P=0.007), hearing pulmonary dry rales (hazard ratio ( HR)[95% CI]: 1.53[1.12~2.09], P=0.007) and heart murmurs ( HR[95% CI]: 4.44[1.43~13.83], P=0.010) were associated with ocular surface disease. Conclusions:The incidence of ocular surface disease in personnel engaged in electric grid construction at high altitudes should not be ignored.High working altitude, low residence altitude, pulmonary dry rales, heart murmurs and low blood oxygen saturation are factors associated with the incidence of ocular surface disease.
6.Analysis of the application effects of modified cesarean section techniques on the pregnancy outcomes with the placenta accreta spectrum
Zhixia WEI ; Li FENG ; Hailan YANG
The Journal of Practical Medicine 2025;41(22):3467-3473
Objective To evaluate the impact of modified cesarean section techniques on pregnancy outcomes in cases involving placenta accreta spectrum(PAS).Methods A retrospective study was conducted to enroll 176 pregnant women with PAS who underwent cesarean delivery at the First Hospital of Shanxi Medical University between January 2016 and January 2025.Patients who received traditional cesarean delivery before January 17,2021,were assigned to the control group(n=115),while those who underwent a modified cesarean procedure after that date were included in the modified group(n=61).Clinical data,including gestational age,maternal age,gravidity,and intraoperative blood loss,were collected and compared between the two groups.Subsequently,a random forest algorithm was employed to develop a risk prediction model for adverse pregnancy outcomes in patients with PAS.Results In the modified group,only one patient required a hysterectomy(1.64%),which was signifi-cantly lower than the 19 cases observed in the control group(16.52%).The modified group also demonstrated a higher intraoperative diagnosis rate of placenta accreta,along with lower incidences of hemorrhagic shock,disseminated intravascular coagulation,and neonatal asphyxia compared to the control group.However,the proportions of patients undergoing uterine compression sutures and uterine artery ligation were higher in the modified group,with statistically significant differences(P<0.05).Patients were further classified into low-bleeding and high-bleeding subgroups for subgroup analysis.A significant difference in gravidity was observed between the two subgroups(P<0.05),whereas no significant difference was found in the proportion of patients receiving the modified procedure(P>0.05).A predictive model for refractory postpartum hemorrhage was developed with high discriminative ability(AUC=0.938,95%CI:0.917~0.958).Gini coefficient analysis identified gravidity,number of abortions,and ultrasound diagnosis of placenta accreta as key predictors of refractory postpartum hemorrhage(P<0.05).Conclusion Improved cesarean section techniques can effectively reduce intraoperative and postoperative bleeding in cases of PAS,significantly lowering the risk of hysterectomy and thereby improving pregnancy outcomes.
7.Retrospective analysis of respiratory virus detection methods and epidemiological features in outpatient and emergency departments of Beijing hospitals
Xinlong WANG ; Jiaying ZHANG ; Jun LI ; Jian LIU ; Danying CHEN ; Zhixia GU ; Gang WAN ; Xiaoqin LIU ; Menghan LIU ; Ronghua JIN ; Rui SONG
Chinese Journal of Infectious Diseases 2025;43(10):606-614
Objective:To characterize the epidemiology of respiratory syndrome across healthcare facilities of different types and tiers in Beijing City, to compare pathogen-testing modalities and their associations with adverse outcomes, and to identify key factors associated with progression to severe illness, thereby informing regional prevention, control, and clinical optimization.Methods:The multicenter observational cohort study was performed using outpatient and emergency department data from five sentinel hospitals in Beijing (Beijing Xiaotangshan Hospital, Beijing Chaoyang District Shuangqiao Hospital, Beijing Haidian Hospital, Beijing You′an Hospital, Capital Medical University (Beijing You′an Hospital), and Beijing Ditan Hospital, Capital Medical University (Beijing Ditan Hospital)) from October 1st, 2023 to April 9th, 2025. Dual-target (two-plex) and triple-target (three-plex) respiratory specimens were collected. Demographic characteristics, visit information, pathogen-testing modalities and results were collected, and the epidemiologic features of patients who progressed to severe illness between the influenza high-incidence season (December to May) and the non-influenza season (June to November) were compared. Categorical variables were analyzed using the chi-square test. Multivariable logistic regression was used to estimate associations between covariates and risk of progression to severe illness.Results:Among the 192 131 cases, patients visited at Beijing You′an Hospital were concentrated in the 16 to 44 year age group, accounting for 66.79%(32 532/48 708). Beijing Xiaotangshan Hospital had a broad age distribution, with older adults comprising up to 22.35% (885/3 960). Of the 47 349 respiratory specimens across the five hospitals, Beijing You′an Hospital had the highest positivity rate for dual-target testing (46.76%(1 585/3 390)), while Beijing Haidian Hospital conducted the largest number of this tests ( n=12 514). For triple-target testing, Beijing You′an Hospital again had the highest positivity rate (45.03%(2 835/6 296)), whereas Beijing Ditan Hospital tested the most specimens ( n=12 011; positivity rate was 29.73%(3 571/12 011)). The influenza season within the same period (November 2023 to January 2024) exhibited a bimodal pattern, with alternating circulation of influenza viruses and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Among 32 744 outpatients/emergency patients who progressed to severe illness, significant seasonal differences were observed by sex, age, comorbidity status, and infection type ( χ2=6.60, 189.24, 32.71 and 189.99, respectively; all P<0.05). After adjustment for sex, age group, comorbidities, and infection type, testing modality remained significantly associated with risk of progression (dual-target testing, odds ratio ( OR)=0.116, 95% confidence interval ( CI) 0.111 to 0.122, P<0.001); no testing, OR=0.063, 95% CI 0.060 to 0.065, P<0.001). Conclusions:The epidemiological pattern of respiratory pathogens undergo significant changes after October 2023, which is characterized by alternating waves of influenza viruses and SARS-CoV-2 with pronounced seasonality and diversity. Substantial inter-hospital differences are observed in testing modalities and positivity rates. Risk of progression to severe illness varies significantly by sex, age, comorbidity burden, and infection type, and is closely associated with the testing modality. These findings support strengthening multiplex pathogen testing and targeted surveillance of high-risk groups to improve early identification and precise control of febrile-respiratory syndromes.
8.Incidence and influencing factors of ocular surface disease among power grid construction workers in plateau: a real-world study
Xinyu YANG ; Yunjing ZHANG ; Huziwei ZHOU ; Quanquan GONG ; Xinyu WANG ; Xiaoyu ZHANG ; Zhixia LI ; Shiming LI ; Shengfeng WANG
Chinese Journal of Experimental Ophthalmology 2025;43(5):443-451
Objective:To analyze the incidence and risk factors of ocular surface disease among power grid construction workers in plateau.Methods:A total of 11 132 construction personnel from the Ngari prefecture-central Tibet power grid interconnection project were included from 2019 to 2020.Baseline characteristics including age, gender, body mass index, developmental and nutritional status, relevant clinical indicators, etc.and follow-up data regarding incidence of ocular surface diseases were obtained from the medical records of Ali interconnection project staff medical station.The altitude of workplace and residence of the study population were obtained from the website (https: //zh-cn.topographic-map.com/legal/).The mean age of the subjects was (36.17±10.48) years, of which 95.33%(10, 612 subjects) were male.The median follow-up time was 1.53 years.The altitude of the residence and workplace were (1 954.77±940.64) and (4 535.09±232.71) meters, respectively.The incidence of ocular surface diseases in groups with different characteristics was calculated.Differential variables for the incidence of ocular surface diseases were screened by univariate Cox proportional hazards regression model.Influencing factors of ocular surface diseases multivariate were explored by Cox proportional hazards model.This study was approved by the Ethics Committee of Peking University Health Science Center (No.IRB00001052-21066).Results:During the follow-up period, the incidence of ocular surface disease was 9.27% (1 032 cases), and the incidence of conjunctivitis and keratitis was 6.58% (733 cases) and 1.80% (200 cases), respectively.Multivariate Cox proportional hazards regression analysis showed that for every 1 000 meters increase in altitude of residence, the risk of ocular surface disease decreased by 15% ( HR[95% CI]: 0.85[0.80~0.91], P<0.001).For every 100 meters increase in altitude of workplace, the risk of ocular surface disease increased by 5% ( HR[95% CI]: 1.04[1.01~1.07], P=0.006).Decreased blood oxygen saturation ( HR[95% CI]: 1.09[1.02~1.16], P=0.007), hearing pulmonary dry rales (hazard ratio ( HR)[95% CI]: 1.53[1.12~2.09], P=0.007) and heart murmurs ( HR[95% CI]: 4.44[1.43~13.83], P=0.010) were associated with ocular surface disease. Conclusions:The incidence of ocular surface disease in personnel engaged in electric grid construction at high altitudes should not be ignored.High working altitude, low residence altitude, pulmonary dry rales, heart murmurs and low blood oxygen saturation are factors associated with the incidence of ocular surface disease.
9.Role of NOX4/TRPC6 in podocyte injury during diabetic nephropathy
Ruchi YUE ; Huimin LI ; Bin HU ; Zhixia SONG
Chinese Journal of Pathophysiology 2025;41(2):250-260
AIM:To investigate the role and underlying mechanisms of NADPH oxidase 4(NOX4)/transient receptor potential channel subfamily C member 6(TRPC6)in the context of podocyte damage in diabetic nephropathya comprehensive investigative study was warranted.METHODS:(1)Male Sprague-Dawley rats were randomly divided in-to four distinct groups:a control group,a diabetic nephropathy group,a NOX4 inhibitor GKT137831-treated group,and a combined diabetic nephropathy with NOX4 inhibitor GKT137831-treated group,each consisting of 8~10 rats.The type 1 diabetes mellitus model was constructed via a single intraperitoneal injection of streptozotocin(STZ)(70 mg/kg),subse-quent to the successful induction of the model,GKT137831(at the dose of 5 mg/kg)was administered intraperitoneally.Regular monitoring of blood glucose levels was conducted,and urinary albumin excretion was quantified after 24 hours.Moreover,blood and kidney tissues were harvested for further analysis.(2)Mouse glomerular podocytes were divided into four distinct groups:a normal control group,a high glucose group,a GKT137831-treated group and a high glucose GKT137831-treated group.These podocytes were subsequently cultivated in vitro under high glucose conditions for 2 weeks.Thereafter,transfection of podocytes was carried out using NOX4 inhibitors and short interfering RNA targeting(siRNA)TRPC6.To detect the expression levels of NOX4 and TRPC6,a battery of techniques including Western blot,Immunohistochemistry,and reverse transcription polymerase chain reaction(RT-qPCR)were employed.(3)The morpho-logical changes of podocyte mitochondria under the condition of high glucose were observed by fluorescence confocal mi-croscopy,and the expression levels of peroxisome proliferator-activated receptor gamma coactivator 1α(PGC1α),mito-chondrial transcription factor A(TFAM),cytochromec oxidase subunit Ⅰ(COX Ⅰ)and cytochromec oxidase subunit Ⅳ(COX Ⅳ)in podocytes were assessed utilizing the Western blot technique.RESULTS:(1)Compared with normal con-trol group,mice with diabetic nephropathy manifested pronounced glomerular hypertrophy,thickening of basement mem-brane,expansion of the mesangial region,and an increased rate of urinary albumin excretion was observed.Analytical techniques such as Western blot and Immunohistochemistry showed a significant upsurge in the expression level of the NOX4 protein in kidney tissue,a diminished expression of glomerular podocyte protein(nephrin),an increased expression of interstitial cell markers(desmin),and an enhanced level of TRPC6 expression(P<0.05).GKT137831 was assoiated with a reduction in desmin expression in renal tissue,preservation of glomerular nephrin expression,and a decrease in uri-nary albumin excretion(P<0.05).(2)In vitro podocyte experiment,the expression of NOX4 and TRPC6 in podocyte was significantly increased in the context of high glucose(P<0.05).Findings from Immunofluorescence and Western blot showed that GKT137831 effectively diminished the expression levels of TRPC6 and desmin while partially rescuing neph-rin expression in podocellular cells(P<0.05).Western blot results showed that transfection of TRPC6 small interfering RNA could further promote the protective effect of GKT137831 on podiocytes.(3)Under high-glucose conditions,fluores-cence confocal microscopy revealed mitochondrial morphological damage in podocytes.However,therapeutic intervention with GKT137831 and transfection of TRPC6 siRNA partially rescued the mitochondrial structural integrity.Under high glucose conditions,immunoblot analysis demonstrated a marked decrement in the protein expression levels of PGC1α,TFAM,COX Ⅰ,and COX Ⅳ in podocytes.Importantly,GKT137831 and the transfection of TRPC6 siRNA significantly upregulated the levels of PGC1α,TFAM,COX Ⅰ,and COX Ⅳ(P<0.05).CONCLUSION:In the context of the patho-genesis of diabetic nephropathy,the increased expression of NOX4 in the kidneys contributes to podocyte damage,with the effect being partially mediated via the TRPC6 channel.Inhibiting the NOX4-TRPC6 signaling pathway has the potential to ameliorate mitochondrial dysfunction in podocytes.This finding offers novel perspectives and strategies for the clinical di-agnosis and treatment of diabetic nephropathy.
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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