中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.009
Tong Zhao, Ling Yuan, Jia-Lin Li, Ming Zhao, Yan-Mei Lin, Jun Xing, Lan-Lan Bao
{"title":"[Prognostic Value of Baseline <sup>18</sup>F-FDG PET/CT Combined with Clinicopathological Characteristics in Diffuse Large B-Cell Lymphoma].","authors":"Tong Zhao, Ling Yuan, Jia-Lin Li, Ming Zhao, Yan-Mei Lin, Jun Xing, Lan-Lan Bao","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.009","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.009","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the prognostic value of <sup>18</sup> F-deoxyglucose (FDG) PET/CT metabolic parameters combined with clinicopathological features for newly diagnosed diffuse large B-cell lymphoma (DLBCL) before treatment, and analyze the relationship between tumor metabolic volume (MTV), total lesion glycolysis (TLG) and clinicopathological features.</p><p><strong>Methods: </strong>The clinical data of 120 patients with pathologically confirmed DLBCL were retrospectively analyzed and <sup>18</sup>F-FDG PET/CT was performed 1 week before treatment. The metabolic parameters including SUVmax, SUVmean, tumor-to-blood standardized uptake value ratio (TBR), tumor-to-liver standardized uptake value ratio (TLR) were obtained. MTV and TLG of the lesions were obtained with 41% of SUVmax as the threshold, and the correlation of MTV and TLG with clinicopathological features were analyzed. Progression-free survival (PFS) was calculated by follow-up for 6-153 months. Receiver operating characteristic (ROC) curve, chi-square test, Kaplan-Meier test, log-rank test and Cox proportional hazards model were used to analyze the date.</p><p><strong>Results: </strong>The optimum cut-off values of the SUVmax, MTV, TLG, TBR and TLR for predicting tumor progression were 22.25, 256.05, 5 232.67, 12.97 and 10.60, respectively. The patients were divided into two groups according to the above cut-off values, respectively. Kaplan-Meier survival analysis showed that there were statistically significant differences in PFS between the two group (all <i>P</i> <0.05). The MTV and TLG values were correlated with NCCN-IPI score, Ann Arbor stage, serum lactate dehydrogenase level, and <i>C-MYC, BCL-2, BCL-6</i> gene rearrangement (all <i>P</i> <0.05). Univariate analysis showed that NCCN-IPI score >3, <i>C-MYC, BCL-2, BCL-6</i> gene rearrangement positive, SUVmax≥22.25, MTV≥256.05 cm<sup>3</sup>, TLG≥5 232.67 g and TBR≥12.97 were adverse factors for prognosis (<i>HR</i>: 1.949-5.759, all <i>P</i> <0.05). Multivariate Cox regression analysis showed that <i>C-MYC, BCL-2</i> gene rearrangement positive and TLG≥5 232.67 g were all independent risk factors affecting PFS (<i>HR</i>: 4.660, 3.350, 4.031, all <i>P</i> <0.05).</p><p><strong>Conclusion: </strong>The <sup>18</sup>F-FDG PET/CT metabolic parameters SUVmax, MTV, TLG, TBR and TLR can be used as important indicators to predict PFS of DLBCL patients, and combining clinicopathological features can better predict the prognosis of patients.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"365-372"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036966","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}
中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.043
Dan Zhao, Zeng-Kai Wang, Ting-Ting Chen, Bing-Jie Yao
{"title":"[The Clinical Characteristics and Prognosis of Patients with Light-Chain Amyloidosis: A Retrospective Analysis].","authors":"Dan Zhao, Zeng-Kai Wang, Ting-Ting Chen, Bing-Jie Yao","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.043","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.043","url":null,"abstract":"<p><strong>Objective: </strong>To retrospectively analyze the clinical characteristics, prognosis and prognostic factors of patients with light-chain (AL) amyloidosis, so as to provide reference for the diagnosis and treatment of AL amyloidosis.</p><p><strong>Methods: </strong>Clinical data of 52 patients diagnosed with AL amyloidosis at two hospitals from January 2017 to November 2022 were collected. The clinical characteristics, differences in clinical indexes between the deceased group and the survival group were analyzed. Kaplan-Meier curves were used for overall survival (OS) analysis, and Cox regression models were used to analyze the factors affecting the prognosis.</p><p><strong>Results: </strong>The median age of the 52 patients at diagnosis was 61(41-81) years old, and 63.5% of the patients were male. Heart (69.2%) and kidney (67.3%) were the most involved organs, and 67.3% of the patients had two or more organs involved. Most patients (71.2%) received chemotherapy regimens containing bortezomib, including 5 patients (9.6%) who received treatment with daratumumab in combination with bortezomib. The proportion of male patients (81.0%), the proportion of patients with cardiac involvement (95.2%), and the proportion of patients with Mayo 2012 stage ≥III (95.2%), as well as the levels of hs-cTnI and NT-proBNP in the deceased group were significantly higher than those in the survival group ( <i>P</i> < 0.05). The median OS time of the enrolled patients was 33.4(2.6-60.2) months, with 1-year, 2-year, 3-year and 5-year OS rates of 83.7%, 79.3%, 58.9% and 32.7%, respectively. The Kaplan-Meier survival curve analysis revealed that patients with male gender (<i>P</i> =0.040), NT-proBNP ≥3 600 ng/L ( <i>P</i> < 0.001), Mayo 2012 stage ≥III ( <i>P</i> < 0.001), and cardiac involvement (<i>P</i> =0.008) had poor prognosis and shorter overall survival (OS) time. The multivariate regression analysis showed that Mayo 2012 stage ≥III was an independent risk factor for prognosis.</p><p><strong>Conclusion: </strong>In recent years, the survival rate of patients with AL amyloidosis has improved significantly, but the 5-year survival rate is still relatively low. Cardiac biomarkers (NT-proBNP and hs-cTnI) and Mayo 2012 stage at diagnosis continue to provide important prognostic information. Bortezomib-based regimens were used as the primary treatment in most patients, and the addition of daratumumab is becoming increasingly common.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"593-600"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036967","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}
中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.028
Dao-Ju Ren, Chun-Yue Chen, Xiao-Wei Li, Jun Xiao, Xiao-Juan Zhang, Cui-Ying Li
{"title":"[Serological and Molecular Biological Detection of RhD Variants].","authors":"Dao-Ju Ren, Chun-Yue Chen, Xiao-Wei Li, Jun Xiao, Xiao-Juan Zhang, Cui-Ying Li","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.028","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.028","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the <i>RHD</i> genotyping and sequencing results of RhD serology negative samples in the clinic, and to further explore the laboratory methods for RhD detection, in order to provide a basis for clinical precision blood transfusion.</p><p><strong>Methods: </strong>A total of 27 200 whole blood samples were screened for RhD blood group antigen using microcolumn gel card method.Serologic RhD-negative confirmation tests were performed on blood samples that were negative for RhD on initial screening using three different clonal strains of IgG anti-D reagents. The 10 exons of the <i>RHD</i> gene on chromosome 1 were also analyzed by PCR-SSP to determine <i>RHD</i> genotyping.When the PCR-SSP method did not yield definitive results, the <i>RHD</i> gene of the sample was analyzed by the third-generation sequencing.</p><p><strong>Results: </strong>The results of the initial screening test by the microcolumn gel card method showed that 136 of the 27 200 samples were RhD-negative, of which 86 underwent RhD-negative confirmation testing and <i>RHD</i> genotyping, 88.37% (76/86 cases) of the RhD-negative confirmation test results were negative for the three anti-D reagents, and the results of <i>RHD</i> genotyping showed that 67.44% (58/86 cases) of the cases had a complete deletion of 10 exons, and the remaining 28 cases were <i>RHD*711delC</i> (1 case), <i>RHD*D-CE(1-9)-D</i> (1 case), <i>RHD*D-CE(2-9-)D</i> (2 cases), <i>RHD*D-CE(3-9)-D</i> (4 cases), <i>RHD*DEL1 (c.1227G >A)</i> mutation (16 cases), <i>RHD*weak partial 15(845G >A)</i> mutation (3 cases), and a mutation of c.165C >T base was found in 1 sample by three-generation sequencing.</p><p><strong>Conclusion: </strong><i>RHD</i> genotype testing of samples that are serologically negative for RhD antigen shows that some of the samples have <i>RHD</i> gene variants, not all of which are total deletions of <i>RHD</i>, suggesting that there are some limitations of the serologic method for RhD detection. Due to the polymorphism of the <i>RHD</i> gene structure, different RhD variants present different serologic features, which need to be further detected in combination with molecular biology testing, especially for the identification of Asian-type DELs, which is important for clinical precision blood transfusion.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"498-503"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988145","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":"[Molecular Mechanism of Thymoquinone Inhibition on Malignant Proliferation of Acute Myeloid Leukemia Cells].","authors":"Jie Lin, Fan-Lin Zeng, Yan-Quan Liu, Zhi-Min Yan, Zuo-Tao Li, Qing-Lin Xu, Hong-Quan Zhu","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.001","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.001","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the effects of thymoquinone on the proliferation of acute myeloid leukemia (AML) cells and its molecular mechanism, so as to provide theoretical basis for the basic research on the anti-leukemia of traditional Chinese medicine.</p><p><strong>Methods: </strong>The HL-60 and THP-1 cells were treated with thymoquinone at different concentration gradients, cell proliferation was detected by CCK-8 method, morphological changes were detected by Wright-Giemsa method, apoptosis was detected by Annexin V/PI double staining flow cytometry, and apoptosis and signal pathway protein expression were detected by Western blot. Real-time quantitative fluorescence PCR and Western blot were used to detect the expression changes of high mobility family members of SRY-related proteins (SOX).</p><p><strong>Results: </strong>Thymoquinone inhibited the malignant proliferation of HL-60 and THP-1 cells, up-regulated the expression of pro-apoptotic protein Bax, down-regulated the expression of anti-apoptotic protein Bcl-2 and Survivin, and hydrolyzed Caspase-3 to induce the apoptosis of HL-60 and THP-1 cells. Thymoquinone could also significantly down-regulate the phosphorylation of PI3K, Akt and mTOR, and inhibit the malignant biological characteristics of HL-60 and THP-1 cells by inhibiting the activation of PI3K/Akt/mTOR pathway. After thymoquinone intervention in HL-60 and THP-1 cells, the expression of SOX2 and SOX4 could be down-regulated significantly. At low concentration ( < 10 μmol/L), the expression of SOX12 was weakly affected by thymoquinone. With increasing concentration, the expression of SOX12 could be down-regulated, however, thymoquinone had no effect on SOX11 expression.</p><p><strong>Conclusion: </strong>Thymoquinone can inhibit the proliferation of AML cells, and its mechanism may be related to inhibiting the activation of PI3K/Akt/mTOR signaling pathway, regulating the expression of apoptotic proteins and core members of SOX family.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"311-318"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062715","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}
中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.006
Wen-Jing Zhou, Nian Wang, Li Lin, Li-Juan Wu, Yuan-Xin Ye
{"title":"[The Association of Polymorphisms Drug Metabolism and Transport of Imatinib Related Gene with Severe Hematology Adverse Effects in Chronic Myeloid Leukemia Patients].","authors":"Wen-Jing Zhou, Nian Wang, Li Lin, Li-Juan Wu, Yuan-Xin Ye","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.006","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.006","url":null,"abstract":"<p><strong>Objective: </strong>To screen the genetic risk factors related to severe hematology adverse effects (AEs) in patients with chronic myeloid leukemia (CML) treated with imatinib (IM), and explore the correlation of single nucleotide polymorphisms (SNPs) in IM drug metabolism and transport pathway gene polymorphism with the risk of severe hematology AEs.</p><p><strong>Methods: </strong>172 newly diagnosed Chinese Han patients in CML chronic phase (CML-CP) treated with IM were included and divided into severe hematology AEs group and non-severe hematology AEs group. The demographic characteristics and laboratory test results were compared between the two groups. 11 gene SNP sites in the included subjects were genotyped using SNaPshot multiplex SNPs technique.</p><p><strong>Results: </strong>Compared with non-severe hematology AEs group, the severe hematology AEs group had higher white blood cell (WBC) and EOS% (both <i>P</i> < 0.05), but lower hemoglobin (Hb) and hematocrit (HCT) (both <i>P</i> < 0.01). For rs1045642 of <i>ABCB1</i> gene, there were significant differences in the distribution of allele frequency and genotype frequency of this loci between severe hematology AEs group and non-severe hematology AEs group (both <i>P</i> < 0.05). Carriers of rs1045642 mutation allele A had an increased risk of severe hematology AEs (<i>OR</i> =2.09, 95% <i>CI</i> : 1.24-3.55, <i>P</i> =0.005). There was a significant difference in the distribution of <i>NR1I2</i> gene rs3814055 genotype between severe hematology AEs group and non-severe hematology AEs group (<i>P</i> < 0.05). The additive model and recessive model of <i>ABCB1</i> gene rs1045642 and the recessive model of <i>NR1I2</i> gene rs3814055 were associated with the increased risk of severe hematology AEs (<i>OR</i> =2.14, 3.28, 5.54, all <i>P</i> < 0.05).</p><p><strong>Conclusion: </strong>Peripheral blood WBC, EOS%, Hb and HCT in patients with newly diagnosed CML-CP are all related to the risk of severe hematology AEs. <i>ABCB1</i> gene rs1045642 and <i>NR1I2</i> gene rs3814055 related to the metabolism and transport pathway of IM are associated with severe hematology AEs after IM treatment in CML-CP patients, and they may be potential molecular markers to predict the risk of severe hematology AEs of CML patients treated by IM.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"344-351"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038148","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}
中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.036
Jia-Dong Ding, Yi-Yuan Wang, Xiao-Ping Zhang
{"title":"[A Preliminary Study on Genetic Polymorphism of 12 Rare Blood Group of Dongxiang Nationality in Gansu Province].","authors":"Jia-Dong Ding, Yi-Yuan Wang, Xiao-Ping Zhang","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.036","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.036","url":null,"abstract":"<p><strong>Objective: </strong>To detect the alleles of 12 blood group systems (Rh, MNS, Duffy, Kidd, Kell, Diego, Dombrock, Yt, Colton, Scianna, Lutheran and Lw) of Dongxiang ethnic group in Gansu province, and understand the characteristics of rare blood group alleles common in Dongxiang ethnic group, in order to provide a basis for safe blood transfusion and the establishment of blood group gene bank.</p><p><strong>Methods: </strong>The alleles of 12 blood group systems were classified by polymerase chain reaction (PCR) in 100 people from Dongxiang ethnic group in Gansu province, and the differences of gene frequency compared to other areas in China were analyzed.</p><p><strong>Results: </strong>The allele frequencies of Rh, MNS, and Dombrock blood group systems of Dongxiang ethnic group in Gansu province were similar to northern regions. The Duffy blood group system exhibited specificity, with frequencies lower than most southern regions as well as northern regions. There were no significant differences in Kidd, Kell and Diego blood group systems compared to other regions in China. The Lu<sup>a</sup> gene frequency of Lutheran blood group system was higher than all regions in China, which might be associated with genetic variation or sample selection and size. Yt, Colton, Scianna and Lw blood group genes showed monomorphic distribution, and the genotypes were <i>Yt<sup>a</sup>Yt<sup>a</sup>, Co<sup>a</sup>Co<sup>a</sup>, Sc1Sc1 and Lw<sup>a</sup>Lw<sup>a</sup></i>, respectively.</p><p><strong>Conclusion: </strong>Rh, MNS, Duffy, Kidd, Kell, Diego, Dombrock and Lutheran blood group systems show polymorphic distribution, while Yt, Colton, Scianna and Lw blood group systems show monomorphic distribution. The distribution of blood group genes among Dongxiang ethnic group in Gansu province has its own specificity.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"552-556"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038346","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}
中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.046
Yu-Qi Zhang, Hong-Mei Jing
{"title":"[The Pathogenesis and Treatment Progress of Extramedullary Multiple Myeloma --Review].","authors":"Yu-Qi Zhang, Hong-Mei Jing","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.046","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.046","url":null,"abstract":"<p><p>Extramedullary disease (EMD) is an independent prognostic factor for multiple myeloma (MM). Compared with MM without EMD, MM with EMD has different genetic characteristics, with a higher incidence of high-risk chromosomal abnormalities, more complex genomic profile, and immunophenotypic features related to adhesion molecule and chemokine expression. The mutual regulation between myeloma cells and tumor microenvironment, including changes in immune environment, deposition of extracellular matrix, abnormal expression of adhesion molecules, and autocrine secretion of myeloma cells, is involved in the extramedullary migration of myeloma cells. Various immune-targeted therapies have improved the prognosis of extramedullary MM (EMM). This article reviews the genetic characteristics of EMM, important role of tumor microenvironment, and progress of treatment.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"612-615"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050829","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}
中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.026
Chun-Huan Zhou, Wen-Bing Zou, Zheng-Yuan Cao
{"title":"[Analysis of the Results of Thalassemia Gene Screening in 9 334 Cases in Guiyang Region].","authors":"Chun-Huan Zhou, Wen-Bing Zou, Zheng-Yuan Cao","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.026","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.026","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the common genotypes and distribution characteristics of thalassemia in Guiyang region, and preliminarily analyze the rare mutations of globin genes in this area.</p><p><strong>Methods: </strong>A total of 9 334 individuals who came to our hospital for thalassemia screening from June 2016 to February 2023 were included in this study. They were examined for common thalassemia mutations using PCR-based flow-through hybridization technology. Meanwhile, rare and unknown mutations were detected by Sanger sequencing.</p><p><strong>Results: </strong>Among the 9 334 cases, 895 positive cases of common thalassemia were detected, with a positive rate of 9.59%. Among the positive samples, 565 cases (63.13%) were confirmed to be α thalassemia, of which the most common genotypes were αα/-α<sup>3.7</sup> (46.37%), followed by αα/--<sup><i>SEA</i></sup>(26.55%) and αα/-α<sup>4.2</sup>(10.62%); 310 cases (34.64%) were diagnosed as β thalassemia, with β<sup><i>CD17</i></sup>/β<sup><i>N</i></sup> (39.35%) being the most frequent genotype, followed by β<sup><i>CD41-42</i></sup> /β<sup><i>N</i></sup> (31.29%) and β <i><sup>IVS-II-654</sup></i>/ β<sup><i>N</i></sup> (12.90%). There were 20 cases (2.23%) of αβ complex thalassemia, mainly being αα/-α<sup>3.7</sup> combined with β<sup><i>CD17</i></sup> /β<sup><i>N</i></sup> . Additionally, 8 cases of rare globin gene mutations were found by Sanger sequencing, including 7 mutation types. Among them, <i>HBB: c. -137C> T (-87 C>T)</i> was reported for the first time in Guizhou; <i>HBA1 : c.*29C>T</i> and <i>HBB : c. 93-50C>T (IVS I-81C>T)</i> were new mutations that had not been recorded in either the HbVar or IthaGenes database.</p><p><strong>Conclusion: </strong>Guiyang region has a high incidence of thalassemia mutations, and these mutations are diverse and complex. Analyzing gene mutation types of thalassemia in this area can contribute to the prevention of the birth of children with severe thalassemia.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"486-490"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015231","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}
中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.037
Xia-Wei Zhang, Jing-Jing Yang, Ning LE, Yu-Jun Wei, Ya-Nan Wen, Nan Wang, Yi-Fan Jiao, Song-Hua Luan, Li-Ping Dou, Chun-Ji Gao
{"title":"[Efficacy and Safety of Decitabine-Based Myeloablative Preconditioning Regimen for allogeneic Hematopoietic Stem Cell Transplantation in Patients with Acute Myeloid Leukemia].","authors":"Xia-Wei Zhang, Jing-Jing Yang, Ning LE, Yu-Jun Wei, Ya-Nan Wen, Nan Wang, Yi-Fan Jiao, Song-Hua Luan, Li-Ping Dou, Chun-Ji Gao","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.037","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.037","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the efficacy and safety of decitabine-based myeloablative preconditioning regimen for allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients with acute myeloid leukemia (AML).</p><p><strong>Methods: </strong>The clinical characteristics and efficacy of 115 AML patients who underwent allo-HSCT at the First Medical Center of Chinese PLA General Hospital from August 2018 to August 2022 were retrospectively analyzed, including 37 patients treated with decitabine conditioning regimen (decitabine group) and 78 patients without decitabine conditioning regimen (non-decitabine group). The cumulative incidence of relapse (CIR), overall survival (OS), leukemia-free survival (LFS), non-relapse mortality (NRM) and graft versus host disease (GVHD) were analyzed.</p><p><strong>Results: </strong>For the patients in first complete remission (CR1) state before allo-HSCT, the 1-year relapse rates of decitabine group(22 cases) and non-decitabine group(69 cases) were 9.1% and 29.6%, respectively, the difference was statistically significant(<i>P</i> =0.042). The 1-year cumulative incidence of acute graft-versus-host disease (aGVHD) in decitabine group and non-decitabine group was 62.2% and 70.5%, respectively, and the 1-year cumulative incidence of chronic inhibitor-versus-host disease (cGVHD) was 18.9% and 14.1%, respectively, there were no significant differences in the incidence of aGVHD and cGVHD between the two groups (<i>P</i> >0.05). Of the 115 patients, there were no significantly differences in the 1-year CIR(21.7% <i>vs</i> 28.8%, <i>P</i> =0.866), NRM(10.9% <i>vs</i> 3.9%, <i>P</i> =0.203), OS(75.2% <i>vs</i> 83.8%, <i>P</i> =0.131) and LFS(74.6% <i>vs</i> 69.1%, <i>P</i> =0.912) between the decitabine group(37 cases) and the non-decitabine group(78 cases).</p><p><strong>Conclusion: </strong>Decitabine-based conditioning regimen could reduce the relapse rate of AML CR1 patients with good safety.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"557-564"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032306","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}
中国实验血液学杂志Pub Date : 2025-04-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.02.040
Zhao Wang, Xiao-Xue Wang, Run-Lin An, Li-Jin Bo, Yu-Ping Zhao
{"title":"[Clinical and Laboratory Characteristics of Cold Agglutinin Disease Patients with Positive Results of Acidified-Serum Lysis Test].","authors":"Zhao Wang, Xiao-Xue Wang, Run-Lin An, Li-Jin Bo, Yu-Ping Zhao","doi":"10.19746/j.cnki.issn.1009-2137.2025.02.040","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.040","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the clinical features and laboratory characteristics of patients with cold agglutinin disease (CAD)/cold agglutinin syndrome (CAS) who were positive for acidified-serum lysis test (Ham test), and to compare them with Ham test negative CAD/CAS patients and paroxysmal nocturnal hemoglobinuria (PNH) patients, in order to provide references for the differential diagnosis of these diseases.</p><p><strong>Methods: </strong>53 patients diagnosed with CAD/CAS and 67 patients diagnosed with classic PNH in our hospital from January 2015 to December 2020 were retrospectively analyzed. The patients were grouped according to clinical diagnosis and results of cold agglutinin test (CAT), direct antiglobulin test (DAT), Ham test and PNH clone detection. The clinical and laboratory characteristics of each group were compared.</p><p><strong>Results: </strong>The patients were grouped as follows: Ham<sup>-</sup> CAD/CAS group, CAD/CAS patients negative for Ham test (<i>n</i>=36); Ham<sup>+</sup> CAD/CAS group, CAD/CAS patients positive for Ham test (<i>n</i>=17); classic PNH group (<i>n</i>=67). Compared with the classic PNH group, the Ham<sup>+</sup> CAD/CAS group had a higher median age (<i>P</i> =0.024), weaker positivity of Ham test, higher positive rates of CAT and DAT, and lower positive rate of PNH clone detection (all <i>P</i> <0.001). The proportions of patients with splenomegaly and cyanosis in Ham<sup>+</sup> CAD/CAS group were significantly higher than those in classic PNH group (<i>P</i> =0.002 and <i>P</i> <0.001). Ham<sup>+</sup> CAD/CAS group displayed lower red blood cell count (RBC) and lactate dehydrogenase (LDH) level (<i>P</i> =0.007 and <i>P</i> <0.001), and higher mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and indirect bilirubin (IBIL) level (<i>P</i> =0.003, <i>P</i> =0.004 and <i>P</i> =0.006) than those in classic PNH group. The levels of serum complement C3 and C4 in Ham<sup>+</sup> CAD/CAS group were lower than those in classic PNH group (<i>P</i> =0.001 and <i>P</i> <0.001). The positive rate of urinary occult blood in Ham<sup>+</sup> CAD/CAS group was lower than that in classic PNH group (<i>P</i> =0.010). The clinical and laboratory characteristics of Ham<sup>+</sup> CAD/CAS group were similar to those of Ham<sup>-</sup> CAD/CAS group, except for median age, hemoglobin (Hb), MCHC, mean corpuscular volume (MCV), reticulocyte ratio (Ret), Ham test results, DAT positive types, and proportion of splenomegaly.</p><p><strong>Conclusion: </strong>Some clinical features and laboratory indicators of CAD/CAS patients with positive results of Ham test are different from those of classic PNH patients, but relatively similar to those of CAD/CAS patients with negative results of Ham test. These results may provide a reference for differential diagnosis of related diseases.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 2","pages":"575-579"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019872","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}