Indian Journal of Hematology and Blood Transfusion最新文献

{"title":"The First Report of Three Glucose-6-Phosphate Dehydrogenase (G6PD) Variants: Mediterranean, Orissa and Kalyan-Kerala from Northeast India.","authors":"Noymi Basumatary, Dipankar Baruah, Paresh Kumar Sarma, Kishore Kumar Wary, Jatin Sarmah","doi":"10.1007/s12288-023-01686-7","DOIUrl":"10.1007/s12288-023-01686-7","url":null,"abstract":"","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45169582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Frequency, Clinico-Hematological Features, and Outcome of Acute Promyelocytic Leukemia with Variant <i>RARA</i> Rearrangements: A Single Center Experience from India.","authors":"Anjali Gupta, Sreejesh Sreedharanunni, Charanpreet Singh, Praveen Sharma, Anshu Anshu, Shailja Rathore, Anand Balakrishnan, Jogeshwar Binota, Shano Naseem, Man Updesh Singh Sachdeva, Alka Khadwal, Arihant Jain, Reena Das, Pankaj Malhotra","doi":"10.1007/s12288-023-01685-8","DOIUrl":"10.1007/s12288-023-01685-8","url":null,"abstract":"","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47013100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment and Outcome of Light Chain Deposition Disease in the Era of Novel Agents and Transplant.","authors":"Priyanka Moule, Deepika Gupta, Chetan Agarwal, Pallav Gupta, Jyoti Kotwal, Nitin Gupta","doi":"10.1007/s12288-023-01681-y","DOIUrl":"10.1007/s12288-023-01681-y","url":null,"abstract":"","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43102272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HIV Associated Lymphomas: A Double-Edged Sword.","authors":"Reema Singh, Jyotsna Kapoor, Nisha Panwar, Sujay Rainchwar, Pritish Chandra Patra, Rohan Halder, Rayaz Ahmed, Narendra Agrawal, Dinesh Bhurani","doi":"10.1007/s12288-023-01636-3","DOIUrl":"10.1007/s12288-023-01636-3","url":null,"abstract":"<p><p>People with HIV (human immunodeficiency virus) are at higher risk of developing Lymphomas in comparison to people without HIV. The risk of developing lymphomas in patients with HIV continues to persist, even in the HAART era. We retrospectively analysed outcomes of patients with HIV associated lymphomas between Jan 2012 and Oct 2022, with minimum follow up of 6 months. Outcomes have been reported in terms of overall response rate (ORR), overall survival (OS) and event free survival (EFS). Statistical methods such as Kaplan Meier test were used to assess the overall survival and progression free survival, while chi-square test was used to assess factors affecting disease response. Twenty-three patients were identified as HIV associated lymphoma in that duration. Four patients were excluded from the cohort due to insufficient data in the database record. 12 (63.15%) were male and 07 (36.85%) were females with male: female ratio of 1.7:1. Median age was 42 years ranging from 21 to 66 years. 11 (57.9%) patients had stage-4 disease at presentation. Median CD4 counts at diagnosis was 615/µl, ranging from 130 to 1100/µl. DLBCL cases were in majority which showed 60% of CR post 1st line Chemotherapy. At the last follow-up, 04 (21.05%) patients were dead and 15 (78.95%) patients were alive. 10 years Overall survival [OS] and Progression Free Survival [PFS] was found to be 78.95% ± 11 at a median follow up of 42.6 months ranging (1.7-114.3) months. HIV associated lymphomas have an acceptable prognosis, despite majority presenting with stage 4 disease, low median CD4 count at diagnosis, concomitant ART, and treatment with intensive chemotherapy.</p>","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46255021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of Rhesus (Rh) Antigen Distributions in Donors and Multi-transfused Patients for Phenotype-Matched Transfusion.","authors":"Yuhong Zhao, Ni Yao, Yan Lv, Dawei Cui, Jue Xie","doi":"10.1007/s12288-023-01676-9","DOIUrl":"10.1007/s12288-023-01676-9","url":null,"abstract":"<p><p>Knowledge about the frequency of Rh blood group systems in the local population help build a donor pool for multi-transfused patients and provide antigen-negative compatible blood for patients with alloantibodies. ABO and Rh antigens were identified for blood donors and patients before transfusion. The antiglobulin test based on the micro-column gel method was used to perform unexpected antibody screening and identification for patients in pre-transfusion testing. The incidence of the adverse transfusion reactions and the accordance rate of Rh phenotype-matched transfusion were analyzed retrospectively. A total of 246,340 specimens were detected with Rh blood group antigens D, C, E, c, and e. Rh D antigen was the most common phenotype with a frequency of 99.40%, followed by e antigen, C antigen, c antigen, and E antigen. In Rh D positive specimens, DCe was the most common phenotype, while DCE was the least common. At the same time, in Rh D negative specimens, ce was the most common phenotype with CE and CcE unobserved. Rh phenotype-matched transfusion has been conducted in our department since 2012. The accordance rate of Rh phenotype-matched transfusion has been kept above 95% and the resulting incidence of adverse transfusion reactions has been decreasing year by year, from 19.95‰ in 2011 to 2.21‰ in 2021. Blood transfusion with matched Rh phenotypes was able to avoid the generation of unexpected antibodies, reduce the incidence of adverse transfusion reactions, and enhance precise diagnosis and treatment.</p>","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43455838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.","authors":"Chunchen Yang, Ziqiang Yu, Wei Zhang, Lijuan Cao, Zhenni Ma, Xia Bai, Changgeng Ruan","doi":"10.1007/s12288-023-01675-w","DOIUrl":"10.1007/s12288-023-01675-w","url":null,"abstract":"<p><p>To investigate the risk factors of FVIII inhibitors development in severe hemophilia A (HA) patients who were received on-demand therapy and were infused with plasma cryoprecipitate and multiple FVIII concentrates alternately. We collected clinical information from 43 severe HA children who were treated with plasma cryoprecipitate and multiple FVIII concentrates. The F8 mutation was detected by long-distance PCR for inversion and detected by all exons and their flanking sequencing for other mutations. The inhibitor detection was performed by Nijmegen-modified Bethesda assay. The impact of novel amino substitutions on FVIII protein was predicted by SIFT and PolyPhen-2. The 3D analysis of missense mutations was performed using Swiss-PdbViewer. FVIII inhibitors were detected in nine cases (20.9%). All of the inhibitor positive cases had high risk F8 gene mutations. In most of the positive cases (7/9), inhibitors were developed during the first 10 EDs, which was significantly higher than that in the 10-50 EDs group and 50 EDs group (<i>p</i> = 0.009). Three novel mutations were reported, including c.214G > T (E72X), c.218 T > C (F73S), and c.2690C > G (S840X). For severe HA patients who are treated with multiple products of replacement therapy, it is important to supervise inhibitor during the first 10EDs, especially for those with high risk F8 gene mutations. F8 gene mutation is one of the most important genetic factors for inhibitor development. It is essential to detect F8 gene for all severe HA patients. Three novel mutations were reported to expand the mutation spectrum of the F8 gene.</p>","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43389981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Outcome of Pediatric Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia: Experience from a Referral Center in South India.","authors":"Nikita Antonisamy, Deepthi Boddu, Rikki John, Richa Sharon Angel Korrapolu, Poonkuzhali Balasubramanian, Arun Kumar Arunachalam, Leenu Lizbeth Joseph, Hema Nalapullu Srinivasan, Leni Grace Mathew, Sidharth Totadri","doi":"10.1007/s12288-023-01684-9","DOIUrl":"10.1007/s12288-023-01684-9","url":null,"abstract":"<p><p>Although improved survival in children with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph-ALL) has been demonstrated in trials, the outcome appears to be inferior in low- and middle-income countries (LMIC). Methods A file review of children aged ≤ 15 years diagnosed with Ph-ALL from 2010 to 2019 was performed. Minimal residual disease (MRD) was assessed by flow-cytometry. Real-time polymerase chain reaction (qRT-PCR) was used to quantify the <i>BCR::ABL1</i> transcripts during treatment. Results The mean age of the 20 patients in the study was 91 months. Of 19 patients in whom the <i>BCR::ABL1</i> transcript was confirmed, 10(50%) had P210, 7(35%) had P190, and two showed dual expression. The mean dose of imatinib that was administered was 294 ± 41 mg/m²/day. qRT-PCR for <i>BCR::ABL1</i> was < 0.01% in all patients who were in remission or had a late relapse and was ≥ 0.01% in patients who had an early relapse. Two patients underwent HSCT. The 3-year event-free survival (EFS) was 35.0 ± 10.7%. Patients with a good prednisolone response (GPR) and a negative end-of-induction MRD demonstrated a superior EFS to those who lacked either or both (80.0 ± 17.9% vs. 16.7 ± 15.2%, <i>P</i> = 0.034). Conclusion The 3-year EFS of 20 children with Ph-ALL treated with chemotherapy and TKI was < 50%. An unusually high proportion of patients with p210 transcript expression; sub-optimal TKI dosing and lesser intensity of chemotherapy, due to the concern of high treatment-related mortality in LMIC are possible reasons for the poor outcome. Conventional treatment response parameters such as GPR and MRD predict outcomes in Ph-ALL. qRT-PCR for <i>BCR::ABL1</i> may have a role in predicting early relapse.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12288-023-01684-9.</p>","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48571610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relapsed Multiple Myeloma with Anaplastic Transformation.","authors":"Durgadevi Sundaresan, Snehvarsha Bhagat, Sreejesh Sreedharanunni, Man Updesh Singh Sachdeva, Pankaj Malhotra, Praveen Sharma","doi":"10.1007/s12288-023-01672-z","DOIUrl":"10.1007/s12288-023-01672-z","url":null,"abstract":"","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830952/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46882493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Diagnostic Efficacy of Novel Red Blood Cell Parameters as Potential Screening Test for Detecting Latent Iron Deficiency in Blood Donors.","authors":"Abhishek Shukla, Namrata Punit Awasthi, Pooja Sharma, Vandana Tiwari, V K Sharma, Manish Raj Kulshrestha, Pradyumn Singh, Nuzhat Husain","doi":"10.1007/s12288-023-01683-w","DOIUrl":"10.1007/s12288-023-01683-w","url":null,"abstract":"<p><p>Iron deficiency anemia (IDA) forms a major share of global burden of anemia. Frequent blood donation is a common iatrogenic cause of iron insufficiency in healthy adults. Serum iron and hemoglobin levels are normal despite low serum ferritin levels, referred to as latent iron deficiency (LID). Aim of the present study was to evaluate the role of novel RBC parameters-percentage of hypochromic RBCs (%HPO), percentage of microcytic RBCs (%MIC), and haemoglobin content of reticulocytes (MCHr) of Abbott Alinity autoanalyzer as indicators of latent iron deficiency in blood donors. 260 consenting and eligible blood donors were included in the study. Complete blood counts including new RBC parameters on Abbott Alinity autoanalyzer and serum iron profile were measured for all donors. Donors were categorized into LID and No LID based on Ferritin and Transferrin saturation (TSAT). Serum transferrin receptors (sTfR) were studied in a subset of samples [LID (n = 46), No LID (n = 18) and IDA (n = 27)]. Statistical analyses was done on IBM SPSS version 22. Among 260 donors, 56 (21.5%) were found to have LID. The difference in mean values for % HPO, % MIC, and MCHr were not found to be statistically significant in LID and No LID groups. sTfR results between LID, No LID and IDA sub-groups revealed significant difference. This study does not support the role of % HPO, % MIC and MCHr measured on Abott Alinity analyzer, as potential screening parameters for LID amongst blood donors. STfr was more informative in this regard. Further research on much larger sample size is required to confirm these findings.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12288-023-01683-w.</p>","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10831009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45552672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Germline CSF3R, RUNX1 and ETV6 Pathogenic Variants in a Case of Atypical Chronic Myeloid Leukemia: Individual to Familial Unravelling by Next Generation Sequencing.","authors":"Aastha Gupta, Aditi Aggarwal, Sanjeev Sharma, Varun Bafana, Shivani Sharma","doi":"10.1007/s12288-023-01656-z","DOIUrl":"10.1007/s12288-023-01656-z","url":null,"abstract":"","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10831016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47283215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}