Indian Journal of Hematology and Blood Transfusion最新文献_第3页

Association Between the Anemia During Pregnancy and Maternal Intensive Care Unit Admissions: A Systematic Review and Meta-Analysis 孕期贫血与产妇入住重症监护室之间的关系：系统回顾与元分析

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-25 DOI: 10.1007/s12288-024-01849-0

Tejaswini B. Darukaradhya, Asmitha Bhateja, Sujata Siwatch, Muhammad Aaqib Shamim, Prakasini Satapathy, Aravind P. Gandhi

{"title":"Association Between the Anemia During Pregnancy and Maternal Intensive Care Unit Admissions: A Systematic Review and Meta-Analysis","authors":"Tejaswini B. Darukaradhya, Asmitha Bhateja, Sujata Siwatch, Muhammad Aaqib Shamim, Prakasini Satapathy, Aravind P. Gandhi","doi":"10.1007/s12288-024-01849-0","DOIUrl":"https://doi.org/10.1007/s12288-024-01849-0","url":null,"abstract":"<p>Anemia during pregnancy is one of the most common conditions that may have adverse consequences on maternal and fetal health. Current evidence is inconsistent with regards to the effects of anemia on maternal ICU admissions. This meta-analysis aimed to examine the overall effect of anemia during pregnancy on maternal ICU admissions. We searched PubMed, Embase, Cochrane Library, and Web of Science for observational studies that compared the risk of ICU admission between anemic and non-anemic pregnant women. We pooled the odds ratios (ORs) for ICU admission using a random-effects model. Heterogeneity among studies was assessed using prediction intervals (PIs), Tau<sup>2</sup> and I<sup>2</sup> statistics. Sensitivity analysis by excluding outlier studies, meta-regression by sample size and age, and publication bias detection by LFK index and Doi plot was undertaken. Eight studies with a total of 21,997,574 participants in both anemic and non-anemic groups were included. Of them, meta-analysis was conducted in seven studies which yielded a pooled OR for anemia and ICU admission as 1.32 (95% CI 0.62–2.81). There was also a very high level of heterogeneity among studies (PI: 0.10–18.16, I<sup>2</sup> = 100%). When an influential study was omitted, the pooled OR 1.16 (95% CI − 1.13; 1.20) for ICU admission was significant. The LFK index was − 3.64, indicating publication bias. Anemia in pregnant women might be associated with a higher risk of ICU admission, but it is essential to interpret this cautiously due to significant heterogeneity and potential publication bias.</p><p><b><i>Registration</i></b>: PROSPERO database (CRD42023466529).</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"2018 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Metastatic Adenocarcinoma to Bone Marrow Presenting as Microangiopathic Hemolytic Anemia – Diagnostic Issues in a Series of Seven Young Adults 骨髓转移性腺癌表现为微血管病性溶血性贫血--七名年轻成人系列病例的诊断问题

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-24 DOI: 10.1007/s12288-024-01842-7

Babu Vishva, Arumugam Pradeep, Nimesh Mishra, Rakhee Kar, Debdatta Basu

{"title":"Metastatic Adenocarcinoma to Bone Marrow Presenting as Microangiopathic Hemolytic Anemia – Diagnostic Issues in a Series of Seven Young Adults","authors":"Babu Vishva, Arumugam Pradeep, Nimesh Mishra, Rakhee Kar, Debdatta Basu","doi":"10.1007/s12288-024-01842-7","DOIUrl":"https://doi.org/10.1007/s12288-024-01842-7","url":null,"abstract":"<p>Cancer related microangiopathic hemolytic anemia is a rare entity and shares clinical and hematological features with other causes of thrombotic microangiopathy and leads to diagnostic dilemma and treatment delays. This record-based descriptive study, spanning five years, details the clinicopathological features with special emphasis on the peripheral blood findings in unsuspected cases of bone marrow metastasis of unknown primary in young adults. Seven relatively young patients, with an average age of 27 years, presented with unexplained anemia with peripheral blood showing features of microangiopathic hemolytic anemia, thrombocytopenia, and leukoerythroblastic picture. Subsequent bone marrow examination revealed presence of metastatic adenocarcinoma with the primary site being detected in five of the seven patients. This case series highlights these uncommon, but significant, hematological manifestations of metastatic adenocarcinoma in bone marrow in young adults, and the importance of astute observations of peripheral blood smear in detection of an underlying malignancy.</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"11 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Comprehensive Gap Analysis of Risk Factors for Transfusion Dependent Thalassemia in Siblings 兄弟姐妹中输血依赖型地中海贫血风险因素的综合差距分析

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-22 DOI: 10.1007/s12288-024-01848-1

Dolat Singh Shekhawat, Siyaram Didel, Abhishek Purohit, Tanuja Rajial, Charu Sharma, Pratibha Singh, Kuldeep Singh

{"title":"A Comprehensive Gap Analysis of Risk Factors for Transfusion Dependent Thalassemia in Siblings","authors":"Dolat Singh Shekhawat, Siyaram Didel, Abhishek Purohit, Tanuja Rajial, Charu Sharma, Pratibha Singh, Kuldeep Singh","doi":"10.1007/s12288-024-01848-1","DOIUrl":"https://doi.org/10.1007/s12288-024-01848-1","url":null,"abstract":"<p>The transfusion-dependent form of thalassemia (TDT) presents as a challenging clinical scenario, requiring life-long care and monitoring. Managing a single TDT child is already very challenging for caregivers, and it becomes extremely burdensome if a couple has two children with TDT. The present study aims to make an effort to do a gap analysis in knowledge or communication, which might have resulted in a couple having two children with TDT. A total of 15 couples were identified who had two TDT children during the period from April 2022 to August 2023. Socio-demographic details, clinical history, three-generation pedigree, caregiver's knowledge about the inheritance pattern of thalassemia, the carrier status of 1st and 2nd-degree relatives, and the role of premarital and prenatal screening were recorded. The mean age difference between the first and second child was 2.6 ± 1.6 years, range 1–6 years. Siblings of 80% of TDT children had not been screened, and second-degree relatives of 86.6% of TDT children had not been screened for thalassemia. There was no history of consanguinity among these 15 families. 13.3% of couples were unaware of the inheritance pattern of thalassemia, and 20% were unaware of the role of consanguinity. At the time of interview, 26.6% of couples had not been tested for thalassemia and 40% parents had not received genetic counselling. Eighty percent of couples were unaware of premarital carrier screening for thalassemia, and only 40% knew about prenatal screening. The study highlights inadequate awareness among parents, delayed diagnosis, short intervals between the births of two children, insufficient genetic counselling, traditional societal beliefs, and reliance on traditional healing practices being the main factors leading to parents having two children with TDT.</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"74 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Original vs. Generic Plerixafor for the Mobilization of Stem Cells in Multiple Myeloma Patients 用于调动多发性骨髓瘤患者干细胞的原研药与普乐沙福仿制药的比较

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-22 DOI: 10.1007/s12288-024-01841-8

Süreyya Yiğit Kaya, Yaşa Gül Mutlu, Orhan Kemal Yücel, İlknur Nizam Özen, Ünal Ataş, Elif Melek, Senem Maral, Volkan Karakuş, Leylagül Kaynar, Ömür Gökmen Sevindik

{"title":"Original vs. Generic Plerixafor for the Mobilization of Stem Cells in Multiple Myeloma Patients","authors":"Süreyya Yiğit Kaya, Yaşa Gül Mutlu, Orhan Kemal Yücel, İlknur Nizam Özen, Ünal Ataş, Elif Melek, Senem Maral, Volkan Karakuş, Leylagül Kaynar, Ömür Gökmen Sevindik","doi":"10.1007/s12288-024-01841-8","DOIUrl":"https://doi.org/10.1007/s12288-024-01841-8","url":null,"abstract":"<p>This study investigates the efficacy and safety of generic plerixafor (Pleksor – Gen Pharma) compared to the original plerixafor (Mozobil - Sanofi) in patients with multiple myeloma undergoing ASCT. A total of 59 patients from three centers, who underwent ASCT between 2018 and 2023, were included and divided into two groups: Mozobil (M) group (<i>n</i> = 32) and Pleksor (P) group (<i>n</i> = 27). Plerixafor was administered as a just-in-time approach with granulocyte-colony stimulating factor (G-CSF) alone or with cyclophosphamide (Cy) + G-CSF mobilization. The study aimed to assess mobilization success and engraftment kinetics. There was no statistically significant difference between the two groups in terms of age, gender, RT history, previous lines of treatment, pretransplant lenalidomide cycles (<i>p</i> = 0.778, 0.165, 0.520, 0.094, 0.530, respectively). However, lenalidomide exposure was significantly higher in P group (18,8% vs. 81,5%, <i>p</i> < 0.001). Both groups achieved a similar total yield of CD34 + cells, and no serious side effects related to plerixafor were noted. Median platelet engraftment time was longer in P group, while neutrophil engraftment time was similar in both groups. This study demonstrates the comparable efficacy of generic plerixafor in myeloma patients, suggesting that it can be a cost-effective alternative with a similar safety profile. These findings contribute to the body of evidence on the use of generic plerixafor in specific patient cohorts, emphasizing its efficacy and safety for ASCT in a sole multiple myeloma patient cohort.</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"121 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prognostic Significance of Regulatory T-Cells and PD-1 + CD8 T-Cells in Chronic Myeloid Leukemia Patients Treated with Generic Imatinib 接受通用伊马替尼治疗的慢性髓性白血病患者体内调节性 T 细胞和 PD-1 + CD8 T 细胞的预后意义

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-20 DOI: 10.1007/s12288-024-01843-6

Fen Saj, Ram Vasudevan Nampoothiri, Deepesh Lad, Aditya Jandial, Man Updesh Singh Sachdeva, Parveen Bose, Neelam Varma, Alka Khadwal, Gaurav Prakash, Pankaj Malhotra

{"title":"Prognostic Significance of Regulatory T-Cells and PD-1 + CD8 T-Cells in Chronic Myeloid Leukemia Patients Treated with Generic Imatinib","authors":"Fen Saj, Ram Vasudevan Nampoothiri, Deepesh Lad, Aditya Jandial, Man Updesh Singh Sachdeva, Parveen Bose, Neelam Varma, Alka Khadwal, Gaurav Prakash, Pankaj Malhotra","doi":"10.1007/s12288-024-01843-6","DOIUrl":"https://doi.org/10.1007/s12288-024-01843-6","url":null,"abstract":"<p>The impact of T-regulatory cells (Tregs), PD-1 + CD8 T-cells, and their dynamics during treatment with imatinib mesylate remains poorly understood in patients with chronic myeloid leukemia (CML). We conducted a prospective study on newly diagnosed, treatment-naïve adult (> 18 years old) patients with CML in the chronic phase (CP) and age- and sex-matched controls. Peripheral blood samples were collected at diagnosis and after three months of imatinib therapy to assess Tregs and PD-1 + CD8 T-cell levels using flow cytometry. The study comprised 57 patients with a median age of 39 years, including 27 males (47%). At baseline, the mean percentage of Tregs was significantly higher in CML patients (3.6 ± 0.32%) compared to controls (1.58 ± 0.21%) (<i>p</i> < 0.0001) but decreased significantly after three months of imatinib treatment (1.73 ± 0.35%) (<i>p</i> < 0.0001). Baseline Treg% exhibited positive correlations with Sokal (r = 0.29), Hasford (r = 0.33), EUTOS (r = 0.28), and ELTS (r = 0.31) risk scores (<i>p</i> < 0.05), as well as with the BCR-ABL transcript levels at three months (<i>p</i> = 0.03). Furthermore, the mean baseline percentage of PD-1 + CD8 T-cells was significantly elevated in CML patients (7.66 ± 0.36%) compared to controls (2.65 ± 0.32%) (<i>p</i> < 0.0001) and also decreased after treatment (3.44 ± 0.37%) (<i>p</i> < 0.0001). The baseline percentage of PD-1 + T-cells demonstrated positive correlations with Sokal (r = 0.26), Hasford (r = 0.27), and ELTS (r = 0.41) risk scores (<i>p</i> < 0.05). Our findings reveal a significantly higher proportion of Tregs and PD-1 + CD8 T-cells in patients with CML-CP compared to healthy controls, notably diminished following imatinib treatment. These observations suggest the potential for immunotherapy as a promising approach to managing immune exhaustion in CML patients.</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"43 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sun Ray Appearance in Skull Plasmacytoma 头颅浆细胞瘤的太阳射线外观

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-13 DOI: 10.1007/s12288-024-01833-8

K. S. Lekshmon, Gogulamudi Pradeep Reddy, Manaswinee Mallik, Aditya Jandial, Arihant Jain, Deepesh Lad, Gaurav Prakash, Pankaj Malhotra, Alka Khadwal

引用次数: 0

The Role of Platelet to Lymphocyte Ratio (PLR) in Predicting Early Treatment Response in Diffuse Large B Cell Lymphoma 血小板与淋巴细胞比值 (PLR) 在预测弥漫大 B 细胞淋巴瘤早期治疗反应中的作用

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-12 DOI: 10.1007/s12288-024-01839-2

Kadir Ilkkilic, Bayram Sen, Osman Cure

{"title":"The Role of Platelet to Lymphocyte Ratio (PLR) in Predicting Early Treatment Response in Diffuse Large B Cell Lymphoma","authors":"Kadir Ilkkilic, Bayram Sen, Osman Cure","doi":"10.1007/s12288-024-01839-2","DOIUrl":"https://doi.org/10.1007/s12288-024-01839-2","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Systemic inflammatory response in diffuse large B-cell lymphoma (DLBCL) is closely related to disease prognosis. Our aim is to determine the role of pretreatment platelet-to-lymphocyte ratio (PLR) in predicting early treatment response in DLBCL patients.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This retrospective study included 94 patients. The correlation of PLR at the time of diagnosis with early treatment response was evaluated.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>66 patients responded to treatment and 28 patients were unresponsive or partially responsive. In univariate analysis, age, eastern cooperative oncology group performance status (ECOG-PS), disease stage, extranodal involvement, neutrophil-to-lymphocyte ratio (NLR), PLR, hemoglobin, albumin, lymphocyte, platelet (HALP) score were found to predict response to treatment. Multivariate analysis revealed that PLR and ECOG-PS were independent predictors of early treatment response.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>PLR can be used by clinicians as an effective, inexpensive inflammatory parameter supplementary to the IPI score to predict early treatment response to chemoimmunotherapy. Treatment of patients with DLBCL with high PLR at the time of diagnosis with more potent regimens may be a rational approach for patients to benefit more from treatment.</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"86 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141935392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Prospective Observational Study of the Prognostic Role of Procalcitonin Compared with High Sensitivity C Reactive Protein in Patients ≥ 15Years of Age with Acute Lymphoblastic Leukemia/Lymphoma with Febrile Neutropenia 前降钙素与高敏 C 反应蛋白对年龄≥ 15 岁且伴有发热性中性粒细胞减少症的急性淋巴细胞白血病/淋巴瘤患者预后作用的前瞻性观察研究

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-06 DOI: 10.1007/s12288-024-01832-9

Satarupa Mohapatra, Prabodha Kumar Das, Ashoka Mahapatra, Suchitra Kumari, Ashutosh Panigrahi

{"title":"A Prospective Observational Study of the Prognostic Role of Procalcitonin Compared with High Sensitivity C Reactive Protein in Patients ≥ 15Years of Age with Acute Lymphoblastic Leukemia/Lymphoma with Febrile Neutropenia","authors":"Satarupa Mohapatra, Prabodha Kumar Das, Ashoka Mahapatra, Suchitra Kumari, Ashutosh Panigrahi","doi":"10.1007/s12288-024-01832-9","DOIUrl":"https://doi.org/10.1007/s12288-024-01832-9","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Our objective was to identify whether procalcitonin (PCT) and C Reactive protein (CRP) are useful biomarkers for patients with acute lymphoblastic leukemia/lymphoma (ALL) and febrile neutropenia (FN). We included patients ≥ 15 years of age as existing literature on them is limited.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>In this prospective observational study, high sensitivity CRP (hsCRP) and PCT were estimated for all patients at baseline, 48 hours, and 96 hours after administration of broad-spectrum empirical antibiotics. The level of these parameters was then correlated with bacteremia, requirement of antibiotic augmentation, septic shock, ICU admission, prolonged hospitalisation, and death.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>We analysed 33 episodes of FN. Bacteremia was seen in 12% and augmentation of antibiotics was done in 30% of the episodes. Two patients had septic shock; no death or ICU admission was observed. Prolonged hospitalisation was required in 36% of the episodes. The hsCRP and PCT peaked at 48 hours, and the PCT level was significantly higher in the group with bacteremia, antibiotic augmentation, and prolonged hospitalisation. The area under the curve (AUC) for PCT (at 48 hours) was greater than hsCRP for antibiotic augmentation and prolonged hospitalisation.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>As a supplement to clinical decision making, serial monitoring of PCT should be done. Levels of PCT at 48 hours of starting antibiotic therapy (≥ 0.82ng/ml) can be used for early augmentation of antibiotic therapy to prevent complications of FN in patient undergoing treatment for ALL.</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"39 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141935331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Efficacy and Safety of Mitapivat in Pyruvate Kinase Deficiency: A Systematic Review and Meta-analysis of Clinical Trials 米他匹伐对丙酮酸激酶缺乏症的疗效和安全性：临床试验的系统回顾和元分析

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-06 DOI: 10.1007/s12288-024-01830-x

Hazem E. Mohammed, Zeyad Bady, Youssef Z. Farhat, Mohamed E. Haseeb, Mohamed Nasser, Francis Eshun, Hussien Ahmed H. Abdelgawad

{"title":"Efficacy and Safety of Mitapivat in Pyruvate Kinase Deficiency: A Systematic Review and Meta-analysis of Clinical Trials","authors":"Hazem E. Mohammed, Zeyad Bady, Youssef Z. Farhat, Mohamed E. Haseeb, Mohamed Nasser, Francis Eshun, Hussien Ahmed H. Abdelgawad","doi":"10.1007/s12288-024-01830-x","DOIUrl":"https://doi.org/10.1007/s12288-024-01830-x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Pyruvate kinase deficiency (PKD), a rare autosomal recessive disease, often leads to chronic hemolytic complications stemming from mutations in the PKLR gene. Mitapivat, an innovative, allosteric activator of the pyruvate kinase enzyme in red blood cells, has emerged as a potential therapeutic agent. This systematic review aims to meticulously evaluate the efficacy and safety of Mitapivat in treating PKD patients.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>We conducted a comprehensive search across three major databases—PubMed, Web of Science, and Scopus—up to November 2023, utilizing a single-arm meta-analysis methodology.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Our analysis included three clinical trials comprising 94 PKD patients. Hemoglobin (HB) levels improved, with an average increase of 1.05 g/dl (95% Confidence Interval [CI]: -0.22 to 2.33). In terms of hemolysis indicators, there was a notable decrease in indirect bilirubin (mean change: -1.36 mg/dl, 95% CI: -3.67 to 0.95) and an increase in haptoglobin (mean change: 0.26 g/L). Patient-reported outcomes (PROs), assessed via the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Impact Assessment, showed significant improvements, with mean changes of -4.95 (95% CI: -6.711 to -3.19) and − 5.97 (95% CI: -9.87 to -2.06), respectively. Adverse effects were generally mild, with the most common being headache, nausea, elevated alanine aminotransferase, and nasopharyngitis.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>Mitapivat substantially improves hemoglobin levels, hemolysis markers, and PROs, maintaining an acceptable safety profile. Nevertheless, additional, larger-scale randomized controlled trials across diverse age groups remain necessary to further corroborate these findings.</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"23 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141935332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of a Novel FUT1 Allele with c.425G > A on the FUT1*01 Allele Background 在 FUT1*01 等位基因背景上鉴定出一个 c.425G > A 的新型 FUT1 等位基因

IF 0.9 4区医学

Indian Journal of Hematology and Blood Transfusion Pub Date : 2024-08-06 DOI: 10.1007/s12288-024-01838-3

Lin-Nan Shao, Yi-Cheng Yang, Chun-Xiang Li, Ning Li, Yue-Xin Xia, Shi-Hang Zhou, Xiao-Hua Liang

{"title":"Identification of a Novel FUT1 Allele with c.425G > A on the FUT1*01 Allele Background","authors":"Lin-Nan Shao, Yi-Cheng Yang, Chun-Xiang Li, Ning Li, Yue-Xin Xia, Shi-Hang Zhou, Xiao-Hua Liang","doi":"10.1007/s12288-024-01838-3","DOIUrl":"https://doi.org/10.1007/s12288-024-01838-3","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background and Objectives</h3><p>The expression of the H antigen on red blood cell membranes is dependent on the human <i>FUT1</i> gene. We herein report a novel <i>FUT1</i> allele found in a Chinese individual.</p><h3 data-test=\"abstract-sub-heading\">Materials and methods</h3><p>The entire <i>FUT1</i> genes of these probands were sequenced through PacBio third-generation sequencing. 3D molecular models of the wild-type and mutant fucosyltransferases were generated using the DynaMut web-server. The effect of the mutation on the enzyme function was predicted by PROVEAN and PolyPhen2.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Two probands exhibited discrepancies in their ABO group typing. PacBio sequencing identified that proband 1 possessed a typical <i>ABO*B.01</i>/<i>ABO*O.01.02</i> genotype for the <i>ABO</i> gene, and was heterozygous with <i>FUT1*01</i> and a reported functionally weakened allele <i>FUT1*01W.23</i> (c.424 C > T, p.Arg142Trp) for <i>FUT1</i> gene. Proband 2 had the <i>ABO*BA.02</i>/<i>ABO*B.01</i> genotype, and was heterozygous for <i>FUT1*01.02</i> and a novel <i>FUT1*01</i>-like allele with c.425G > A (p.Arg142Gln). <i>In silico</i> analysis indicated that the c.424 C > T mutation was classified as “Deleterious” or “Damaging”, whereas the c.425G > A mutation was considered “Neutral” or “Benign”.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>We have identified a novel <i>FUT1</i> allele with c.425G > A on the <i>FUT1*01</i> allele background in an individual exhibiting the B(A) phenotype. These findings contribute to the expanding repository of knowledge regarding the H blood group system.</p>","PeriodicalId":13314,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":"111 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141935335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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