中国实验血液学杂志最新文献

{"title":"[Clinical Observation on Haploid Hematopoietic Stem Cells Combined with Umbilical Cord Blood Double Transplantation for Aplastic Anaemia in Children].","authors":"Huan-Jun Liu, Xing-Hua Chen, Wen-Bang Zhang, Shu-Xia Guo","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.037","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.037","url":null,"abstract":"<p><strong>Objective: </strong>To explore the efficacy and safety of haploidentical hematopoietic stem cell transplantation combined with umbilical cord blood infusion for the treatment of aplastic anaemia in children.</p><p><strong>Methods: </strong>Nine cases of children with aplastic anaemia treated with umbilical cord blood combined with haploidentical hematopoietic stem cell transplantation at the People's Hospital of Henan University of Chinese Medicine from January 1, 2021 to September 15, 2023 with a median age of 11(2-13) years and a median follow up of 18(7.5-21) months were included, and the clinical data were retrospectively analyzed. Hematopoiesis reconstitution, the incidence of graft-versus-host disease(GVHD), infections and survival of the patients were analyzed.</p><p><strong>Results: </strong>All 9 children were successfully implanted. The median time to neutrophil and platelet implantation was 11.11±1.27 d and 12.44±3.36 d, respectively. One case developed acute gastrointestinal GVHD of degree I, which was improved after treatment, and the patient developed superficial gastritis and chronic gastrointestinal GVHD at a later stage, which is currently under clinical follow-up. Acute GVHD of II-IV degree was 0%. Hemorrhagic cystitis in 3 cases, CMV infection in 5 cases and bacterial and fungal infections in 5 cases improved with symptomatic treatment.All 9 children demonstrated complete donor chimerism within 1 month after transplantation, at two years of follow-up, all nine children survived without recurrence or development of grade II-IV GVHD, and there were no children with transplant-related deaths.</p><p><strong>Conclusion: </strong>Haploidentical hematopoietic stem cell transplantation combined with umbilical cord blood transfusion for aplastic anaemia in children has a low incidence and mild degree of GVHD, with significant efficacy, and can be used as a therapeutic option for children without an HLA full donor chimeric match.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The Prognostic Value of Del(1p32) in Patients with Newly Diagnosed Multiple Myeloma].","authors":"Rui Guo, Xu-Xing Shen, Yuan Xia, Yuan-Yuan Jin, Jian-Yong Li, Li-Juan Chen, Hai-Rong Qiu","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.017","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.017","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the prognostic value of del(1p32) in patients with newly diagnosed multiple myeloma (MM).</p><p><strong>Methods: </strong>The clinical data of 341 newly diagnosed MM attended in Jiangsu Province Hospital were retrospective analyzed. Clinical characteristic combined with genetic features, especially del(1p32), were analyzed for survival and prognostic of patients.</p><p><strong>Results: </strong>Among the 341 patients with newly diagnosed MM, 24(7.0%) patients were del(1p32) positive. The progression-free survival (PFS) and overall survival (OS) were significantly shorter in MM patients with del(1p32) than those without del(1p32) (PFS: <i>P</i> < 0.001;OS: <i>P</i> < 0.001). The COX proportional-hazards model showed that del (1p32) was an independent risk factor for PFS and OS of patients with MM. The patients with both 1q21 gain/amplification and del(1p32), as \"double-hit chromosome 1\", have worse prognosis than those with only 1q21 gain/amplification or only del(1p32) (PFS: <i>P</i> < 0.001; OS: <i>P</i> < 0.001).</p><p><strong>Conclusion: </strong>Del(1p32) is an independent risk factor for PFS and OS of patients with MM. Del(1p32) detection should be widely used in the prognostic analysis for newly diagnosed MM patients.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Effect of <i>TP53</i> Allelic State on Clinical Performance and Prognosis of Patients with Myelodysplastic Syndrome].","authors":"Kai Shen, De-Yuan Hu, Su-Ning Chen","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.024","DOIUrl":"10.19746/j.cnki.issn.1009-2137.2024.03.024","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical significance of <i>TP53</i> allelic state in patients with myelodysplastic syndromes (MDS).</p><p><strong>Methods: </strong>The clinical data of 858 MDS patients who underwent second-generation sequencing (NGS) testing in the First Affiliated Hospital of Soochow University from January 2019 to December 2021 were retrospectively analyzed.</p><p><strong>Results: </strong>The median age of the patients was 52 years old, and median follow-up time was 23.8 (0.4-109.6) months. Four hundred and one patients (46.7%) had at least one chromosomal abnormality, including 106 complex karyotypes and 78 monosomal karyotypes. A total of 103 cases of <i>TP53</i> mutations were identified, with a mutation rate of 12%. Compared with <i>TP53</i> wild-type, various types of chromosomal abnormalities were significantly more common in patients with <i>TP53</i> mutations (all <i>P</i> < 0.001). Patients with <i>TP53</i> mutations had lower hemoglobin levels, lower platelet counts and higher percentage of bone marrow primitive cell compared with <i>TP53</i> wild type (all <i>P</i> < 0.05), and significantly shorter overall survival (OS). Among 97 evaluable patients, 33 cases (34%) were mono-allelic <i>TP53</i> mutation, while 64 cases were bi-allelic <i>TP53</i> mutation. Patients in bi-allelic <i>TP53</i> mutation subgroup had a higher proportion of chromosomal abnormalities and a lower number of co-mutations compared with mono-allelic <i>TP53</i> mutation. The median OS was 33.6 months in patients with mono-allelic state and only 11.4 months in patients with bi-allelic state (<i>HR</i>=2.138, 95%<i>CI</i> : 1.053-4.343, <i>P</i> >0.05). Median OS was not reached in <i>TP53</i> wild-type patients, and there was a significant difference in OS among <i>TP53</i> wild-type, mono-allelic and bi-allelic <i>TP53</i> mutation patients (<i>P</i> < 0.001). Multivariable Cox regression analysis showed that bi-allelic <i>TP53</i> was an independent predictor of poor outcomes (<i>HR</i>=2.808, 95%<i>CI</i> : 1.487-5.003, <i>P</i> =0.001), while mono-allelic <i>TP53</i> mutation and wild-type <i>TP53</i> were not.</p><p><strong>Conclusion: </strong>Patients with <i>TP53</i> mutations have a poor prognosis, and bi-allelic <i>TP53</i> mutations have a worse prognosis compared with mono-allelic <i>TP53</i> mutations and independently affect the prognosis of MDS patients.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical Significance of USP5 Expression Level in Acute Myeloid Leukemia and Its Regulatory Effects on AKT/mTOR/4EBP1 Signaling Pathway].","authors":"Ying Tian, Wen-Ming Chen, Yue Zhang","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.004","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.004","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical significance, functional role and potential downstream mechanism of USP5 in acute myeloid leukemia (AML).</p><p><strong>Methods: </strong>The expression of <i>USP5</i> in AML and normal tissues and its correlation with patients' survival were analyzed based on TCGA database. <i>USP5</i> was knocked down and overexpressed in Jurkat and HL-60 cells using lentivirus. USP5 mRNA and protein expression were detected by RT-qPCR and Western blot, respectively. Cell proliferation and growth were measured by CCK-8 and methylcellulose colony-forming assay. Flow cytometry was used to analyze cell cycle and apoptosis.</p><p><strong>Results: </strong><i>USP5</i> was highly expression in AML compared with normal tissues. Up-regulation of <i>USP5</i> was negatively correlated with the survival of AML patients. <i>USP5</i> knockdown and overexpression inhibited and promoted the proliferation and colony growth of AML cells, respectively. Cell cycle arrest and apoptosis were induced in <i>USP5</i> knockdown Jurkat and HL-60 cells. Furthermore, <i>USP5</i> knockdown inhibited the phosphrylation of AKT, mTOR and 4EBP1.</p><p><strong>Conclusion: </strong>Overexpression of <i>USP5</i> predicts poor survival of AML patients. Targeting USP5 suppresses AKT/mTOR/4EBP1 signaling and reduces the proliferation and growth of AML cells.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Bone Metabolism of Multiple Myeloma Bone Disease Patients with Different Blood Separation Results].","authors":"Ze-Wen Fan, Na-Li Chu, Shi Yan, Jian-Qi Qiao, Qiao-Ya Yu, Jing-Yu Zhang","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.022","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.022","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical significance of bone metabolic indexes for disease assessment and curative effect monitoring in multiple myeloma (MM) bone disease (MBD) patients with different blood separation results.</p><p><strong>Methods: </strong>A total of 134 newly diagnosed MM patients treated in Cangzhou Hospital of Integrated TCM-WM-Hebei were enrolled and divided into control group [119 cases, serum, colloid and red blood cell (RBC) from top to bottom of sample] and abnormal group (15 cases, serum, mixed layer of RBC and serum, colloid and RBC from top to bottom of sample) according to the results of blood separation. According to the imaging findings, MBD was classified into grade 0-4, grade 0-2 was mild, and grade 3-4 was severe. The MBD grade of patients in the two groups was analyzed. The curative effect of MBD patients after chemotherapy and the changes of blood separation results and bone metabolic indexes before and after treatment were evaluated. The correlation between β₂-microglobulin (MG) and bone metabolic indexes was analyzed by Pearson correlation analysis.</p><p><strong>Results: </strong>In the control group, there were 69 cases of grade 0-2 and 50 cases of grade 3-4, while in the abnormal group, there were 5 cases of grade 0-2 and 10 cases of grade 3-4, the difference was statistically significant (<i>P</i> < 0.05). The serum β₂-MG, β-CTX levels in abnormal group were both significantly higher than those in control group, while the levels of P1NP and osteocalcin (OC) were significantly lower (all <i>P</i> < 0.001). In the control group, there were 95 patients with ≥ partial response (PR) and the blood separation results were not changed, while 24 patients with <PR and 5 of them had abnormal blood separation results. In the abnormal group, 9 patients with efficacy ≥PR showed normal blood separation results, while 6 patients with efficacy < PR and 5 of them still remained abnormal blood separation results. Compared with before treatment, β-CTX and β₂-MG of patients with efficacy ≥PR were significantly decreased but P1NP and OC increased in the control group (all <i>P</i> < 0.001), which was the same as abnoraml group (both <i>P</i> < 0.001, <i>P</i> < 0.01). There were no significant changes in the levels of all indexes in the two groups of patients with efficacy < PR (<i>P</i> >0.05). Compared with before treatment, the levels of β-CTX and β₂-MG in the control group with unchanged blood separation results were significantly decreased (both <i>P</i> < 0.001), while the levels of P1NP and OC were significantly increased (<i>P</i> < 0.01, <i>P</i> < 0.001), and the level of each index in the patients transformed to abnormal blood separation result after treatment did not significantly change (<i>P</i> >0.05); the levels of β-CTX and β₂-MG in the abnormal group transformed to normal blood separation result were significantly decreased (both <i>P","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Efficacy of Decitabine Combined with Preexcitation Regimen in Treatment of Newly Diagnosed AML Patients Who Did not Respond to Initial Standard Induction Chemotherapy].","authors":"Li-Min Hou, Ying Gao, Qiu-Ying Gao, Ben Niu","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.005","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.005","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the efficacy of decitabine combined with preexcitation regimen in the treatment of newly diagnosed acute myeloid leukemia (AML) patients who have not been relieved by the first standard induction chemotherapy and its influence on the relative content of regulatory T lymphocytes (Tregs).</p><p><strong>Methods: </strong>The clinical data of 102 newly diagnosed AML patients (except acute promyelocytic leukemia) who did not relieve after initial standard induction chemotherapy in Shaanxi Provincial People's Hospital from March 2013 to March 2019 were retrospectively analyzed. Fifty-one patients who accepted pre-excitation regimen were divided into regular group, while another 51 patients treated with decitabine combined with pre-excitation regimen were divided into combination group. The efficacy, incidence of toxic and side effects, Core Scale of Quality of Life (QLQ-C30) score before and after treatment, T lymphocyte subsets (CD3⁺, CD4⁺, CD4⁺/CD8⁺, Tregs) and 3-year overall survival (OS) rate were compared between the two groups.</p><p><strong>Results: </strong>The total effective rate of combination group was 80.39%, which was significantly higher than 62.75% of regular group (<i>P</i> < 0.05). After treatment, the QLQ-C30 score of combination group was 60.27±6.96, which was significantly lower than 65.73±7.96 of regular group (<i>P</i> < 0.001). There was no statistical difference in the incidence of toxic and side effects between the two groups (<i>P</i> >0.05). After treatment, the levels of CD3⁺, CD4⁺, CD4⁺/CD8⁺ in the combination group were higher than those in the regular group (all <i>P</i> < 0.001), while Treg was lower (<i>P</i> < 0.001). The 3-year OS rate in the combination group was 72.55%, which was significantly higher than 52.94% in the regular group (<i>P</i> < 0.001).</p><p><strong>Conclusion: </strong>Decitabine combined with preexcitation regimen has a significant effect on AML patients who have not been alleviated by standard induction chemotherapy in the first course of treatment. It can reduce anti-tumor immune suppression and improve immune function by regulating the relative content of Tregs, thus prolongs survival time and improves life quality of patients without increasing adverse reactions.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Development of a Prognostic Model for Overall Survival Adult Patients with Core Binding Factor Acute Myeloid Leukaemia].","authors":"Lu-Yao Shi, Ling-Ling Li, Tao Li, Ya-Fei Li, Yan-Fang Liu, Zhong-Xing Jiang, Shu-Juan Wang, Chong Wang","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.007","DOIUrl":"10.19746/j.cnki.issn.1009-2137.2024.03.007","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the factors affecting overall survival (OS) of adult patients with core-binding factor acute myeloid leukemia (CBF-AML) and establish a prediction model.</p><p><strong>Methods: </strong>A total of 216 newly diagnosed patients with CBF-AML in the First Affiliated Hospital of Zhengzhou University from May 2015 to July 2021 were retrospectively analyzed. The 216 CBF-AML patients were divided into the training and the validation cohort at 7∶3 ratio. The Cox regression model was used to analyze the clinical factors affecting OS. Stepwise regression was used to establish the optimal model and the nomogram. Receiver operating characteristic (ROC) curve, calibration curve and decision curve analysis (DCA) were used to evaluate the model performance.</p><p><strong>Results: </strong>Age(≥55 years old), peripheral blood blast(≥80%), fusion gene (<i>AML1-ETO</i>), <i>KIT</i> mutations were identified as independent adverse factors for OS. The area under the ROC curve at 3-year was 0.772 and 0.722 in the training cohort and validation cohort, respectively. The predicted value of the calibration curve is in good agreement with the measured value. DCA shows that this model performs better than a single factor.</p><p><strong>Conclusion: </strong>This prediction model is simple and feasible, and can effectively predict the OS of CBF-AML, and provide a basis for treatment decision.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research Progress of Bispecific Antibodies in Treatment of Multiple Myeloma--Review].","authors":"Fan Han, Xue-Peng Zhang, Ya-Ming Xi","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.046","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.046","url":null,"abstract":"<p><p>Multiple myeloma (MM) is an incurable malignant plasma cell diseases, the incidence of which is increasing year by year. The application of immunomodulators drugs, proteasome inhibitors, anti-CD38 antibodies, CAR-T, and HSCT have significantly improved the prognosis of patients with MM, however new therapeutic tools need to be developed to improve the prognosis of patients with relapsed/refractory after conventional regimens treatment. Bispecific antibodies are a novel immunotherapeutic approach that generates immune synapses by binding to targets on malignant plasma cells and cytotoxic immune effector cells (T cells/natural killer cells), leading to T/NK cells activation and malignant plasma cell lysis. Several preclinical and phase I clinical studies have shown good efficacy, bringing new possibilities for patients with relapsed/refractory MM to improve their prognosis in the future in combination with the rest of the treatment options. This article summarizes the classification of bispecific antibodies developed in recent years, and the results of preclinical and clinical trials, which will provide some reference for treating MM.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research Progress of CAR-T Cell Immunotherapy in B-Cell Non-Hodgkin's Lymphoma--Review].","authors":"Mei-Yi Wang, Chen Tian","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.050","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.050","url":null,"abstract":"<p><p>Chimeric antigen receptor T (CAR-T) cell therapy is a rapidly developing new immunotherapy in recent years. Compared with other therapies, CAR-T has significant advantages for high-risk and relapsed/refractory B cell non-Hodgkin's lymphoma (B-NHL) patients. Currently, a variety of anti-CD19 CAR-T cells have been approved by the FDA for the treatment of B-NHL, such as axicabtagene ciloleucel, tisagenlecucel, lisocababtagene maraleucel and brexucabtagene autoleucel. In addition, many studies are actively exploring and developing different targeted CAR-T cells, which show great potential in B-NHL. This review briefly summarized the latest research progress on the application of CAR-T in common B-NHL.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of the Gene Mutation Type and Frequency of Thalassemia Patients in Jingzhou Area].","authors":"Shun Liu, Cheng-Bin Li","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.028","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.028","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the gene mutation types and frequence of thalassemia patients in Jingzhou area.</p><p><strong>Methods: </strong>A total of 721 suspected thalassemia patients who were visited in Jingzhou Central Hospital from June 2019 to June 2022 were selected as the research objects. There were 204 males and 517 females. PCR-reverse dot hybridization method was used to analyze the types and frequencies of 23 common α or β thalassemia gene mutations.</p><p><strong>Results: </strong>Among the 721 patients with suspected thalassemia, 228 cases were positive for α or β thalassemia gene, with a total positive rate of 31.62%, including 87 cases of α-thalassemia, accounting for 38.16%, and 140 cases of β-thalassemia, accounting for 61.40%. There was 1 case of α β complex thalassemia, accounting for 0.44%. A total of 4 types of α-thalassemia gene mutations were detected, all of which were deletion types, including αα/--^<i>SEA</i> (64/87, 73.56%), αα/-α^3.7 (14/87, 16.09%), --^<i>SEA</i> /-α^3.7 (7/87, 8.05%), αα/-α^4.2 (2/87, 2.30%). Among 140 patients with β-thalassemia, 138 were pure heterozygotes, and the genotypes of <i>IVS-II-654M</i> (63/140, 45.00%), <i>CD41-42M</i> (34/140, 24.29%), <i>CD17M</i> (18/140, 12.86%) and <i>CD27-28M</i> (10/140, 7.14%) accounted for 89.29% of all mutations (125/140), 2 cases of double heterozygosity (2/140, 1.43%) were found, no homozygous β-thalassemia were detected; 1 case of αβ complex thalassemia with genotype -α^3.7/<i>IVS-II-654M</i> was found. The incidence of difference types of thalassemia was statistically significant (χ²=194.250, <i>P</i> < 0.001). The percentage of positive thalassemia genes was not significantly difference between male and female suspected patients (χ²=0.199, <i>P</i> =0.655).</p><p><strong>Conclusion: </strong>The α-thalassemia gene mutation in Jingzhou area is dominated by αα/--^<i>SEA</i>, and the <i>IVS-II-654M</i> mutation is more common in β-thalassemia, and α β complex thalassemia is relatively rare, which can provide a reference for the formulation of prevention and treatment measures for thalassemia in Jingzhou area.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}