Blood Cells Molecules and Diseases最新文献_第3页

Use of ektacytometry in patients with PIEZO1 variants of unknown significance 在意义不明的PIEZO1变异体患者中使用ektacetry

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-07-01 Epub Date: 2025-05-16 DOI: 10.1016/j.bcmd.2025.102934

Guzmán López de Hontanar Torres , Montserrat López Rubio , Rafael del Orbe Barreto , Joan-Lluis Vives Corrons , Elena Krishnevskaya , Pedro Antonio Rodríguez Barquero , José María Aspa Cilleruelo , Lucía Castilla García

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Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations 骨髓衰竭病例中SBDS和DNAJC21基因变异的临床和遗传谱：非典型和隐型表现

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-07-01 Epub Date: 2025-04-05 DOI: 10.1016/j.bcmd.2025.102924

Swetha Palla , Prateek Bhatia , Sudhanshi Raina , Sreejesh Sreedharanunni , Alka Khadwal , Arihant Jain , Pankaj Malhotra , Minu Singh , Amita Trehan

引用次数: 0

Hb Lepore Rochester-MN, a novel βδβ double crossover hemoglobin variant Hb Lepore Rochester-MN，一种新的β - δβ双交叉血红蛋白变体

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-07-01 Epub Date: 2025-05-23 DOI: 10.1016/j.bcmd.2025.102937

Aruna Rangan, Kenneth C. Swanson, Michelle Savedra, Xi Zhang, James D. Hoyer, Jennifer L. Herrick

{"title":"Hb Lepore Rochester-MN, a novel βδβ double crossover hemoglobin variant","authors":"Aruna Rangan, Kenneth C. Swanson, Michelle Savedra, Xi Zhang, James D. Hoyer, Jennifer L. Herrick","doi":"10.1016/j.bcmd.2025.102937","DOIUrl":"10.1016/j.bcmd.2025.102937","url":null,"abstract":"<div><h3>Introduction</h3><div>The β-globin gene cluster harbors highly homologous globin genes. Crossover events involving the δ <em>(HBD)</em> and β <em>(HBB)</em> genes result in Lepore (δβ) and anti-Lepore (βδ) hemoglobins (Hbs). Recently, double crossover (βδβ) variants have been reported. Herein, we report βδβ variants identified in our laboratory including the novel Hb Lepore Rochester-MN (LRM).</div></div><div><h3>Methods</h3><div>Blood samples were obtained with Institutional Review Board approval. Protein characterization included cation exchange high performance liquid chromatography (HPLC), capillary electrophoresis (CE) and mass spectrometry (MS). Molecular analysis included <em>HBB</em> Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA).</div></div><div><h3>Results</h3><div>Two distinct βδβ crossover variants were identified: Novel Hb LRM (2 infants, 1 adult) and Hb Wanjiang. Hb LRM separated on protein studies (HPLC, CE and MS) and showed identical protein characteristics as Hb Lepore-Hollandia, however, it was expressed at a higher percentage. Sanger sequencing characterized the variant as NM_000518.4(HBB):c.28_68delins41 (p.Ser10_Glu23delins14TAVNALWGKVNVDA). Hb Wanjiang protein did not separate from Hb A using routine methods (HPLC, CE and IEF) but was identifiable by MS and DNA sequencing as NM_000518.4(HBB):c.255_264delinsTTTTTCTCAG (p.A87_T88delinsSQ).</div></div><div><h3>Conclusions</h3><div>The copy neutral incorporation of δ segments into β gene does not worsen the clinical phenotype. Some substitutions may even have a protective effect when coinherited with Hb S. These uncommon double crossover βδβ variants can pose a diagnostic challenge for laboratories as they can be mistaken for other similar variants on protein evaluation. Also, they may require specialized analysis such as MS, Sanger sequencing or NGS. Interpretation can be challenging if comparison to δ-gene is not considered.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102937"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131137","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

Methodological strategies to study and elucidate RBC properties and their potential clinical impact on transfused patients 研究和阐明红细胞特性及其对输血患者潜在临床影响的方法学策略

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-07-01 Epub Date: 2025-05-18 DOI: 10.1016/j.bcmd.2025.102935

Emmanuel Längst , Michel Prudent

{"title":"Methodological strategies to study and elucidate RBC properties and their potential clinical impact on transfused patients","authors":"Emmanuel Längst , Michel Prudent","doi":"10.1016/j.bcmd.2025.102935","DOIUrl":"10.1016/j.bcmd.2025.102935","url":null,"abstract":"<div><div>Transfusion is a life-saving practice that requires regular blood donation from healthy volunteers. Red blood cells (RBCs) are isolated from blood donation and stored as RBC concentrates (RCCs) at 4 °C for 42 to 49 days depending on storage solution. RBCs have been intensively studied in this context since World War II and a plethora of data has been obtained from identification and quantification of small molecules to cell function. It has become evident that the RBC properties can be affected by different parameters such as the manufacturing process and donor characteristics. These factors among others may exert a significant influence on transfusion efficacy and clinical outcomes.</div><div>After a first part summarizing the impact of the transfusion chain on RBCs and the clinical outcomes (from donors to patients), this review will present different strategies from simple to complex models and from <em>in vitro</em> experiments to clinical trials to fully characterize the properties of RBCs. Furthermore, <em>in silico</em> modeling will be discussed. Beyond pre-analytical conditions, the experimental design might influence the findings. It is therefore essential to expose the RBCs to conditions adapted to the tested hypothesis to understand RBC behavior to optimize the transfusion outcome.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102935"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170588","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 novel ELANE variant causing severe congenital neutropenia diagnosed in adulthood 一种新的ELANE变异导致严重的先天性中性粒细胞减少症诊断在成年期

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-07-01 Epub Date: 2025-06-19 DOI: 10.1016/j.bcmd.2025.102940

Renato Cerqueira , Josefina A.P. Braga , Elyse Moritz , João B. Pesquero , José O. Bordin

引用次数: 0

Factors associated with the occurrence of leg ulcers in people with sickle cell disease: A case-control study 镰状细胞病患者腿部溃疡发生的相关因素：一项病例对照研究

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-05-01 Epub Date: 2025-03-22 DOI: 10.1016/j.bcmd.2025.102922

Josimare Aparecida Otoni Spira , Mery Natali Silva Abreu , Antônio Carlos Martins Guedes , Eline Lima Borges

{"title":"Factors associated with the occurrence of leg ulcers in people with sickle cell disease: A case-control study","authors":"Josimare Aparecida Otoni Spira , Mery Natali Silva Abreu , Antônio Carlos Martins Guedes , Eline Lima Borges","doi":"10.1016/j.bcmd.2025.102922","DOIUrl":"10.1016/j.bcmd.2025.102922","url":null,"abstract":"<div><h3>Aim</h3><div>To identify factors associated with the occurrence of leg ulcers in people with sickle cell disease.</div></div><div><h3>Methods</h3><div>Unpaired case-control study, conducted in 11 specialized services, between August 2019 and April 2020. The convenience sample consisted of 262 people over 18 years of age, diagnosed with sickle cell disease, with 190 controls and 72 cases. To evaluate the possible factors associated with the occurrence of ulcers, both univariate and multivariate binary logistic regression models were used.</div></div><div><h3>Findings</h3><div>The factors associated with the occurrence of leg ulcers were previously healed ulcers (odds ratio 48.48), presence of edema in the lower limbs (5.75), use of antibiotics in the last six months (3.08), daily rest (4.59), and use of compression stockings (6.24). Overweight (0.16), physical leisure (0.33), and domestic (0.37) activities were associated with a lower chance of occurrence of ulcers.</div></div><div><h3>Conclusion</h3><div>Identifying the factors that increase the likelihood of leg ulcers occurring in people with sickle cell disease adds to our knowledge of the subject, especially by determining factors that mitigate the occurrence of ulcers and that go beyond clinical variables.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102922"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681931","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

Danazol causes significant changes in the cardiometabolic profile of patients with acquired aplastic anaemia 达那唑引起获得性再生障碍性贫血患者心脏代谢谱的显著变化

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-05-01 Epub Date: 2025-03-26 DOI: 10.1016/j.bcmd.2025.102921

Hitesh Gurjar , Ankur Jain , Sujata Wangkheimayum , Subhash Varma , Rajesh Vijayvergiya , Pankaj Malhotra

{"title":"Danazol causes significant changes in the cardiometabolic profile of patients with acquired aplastic anaemia","authors":"Hitesh Gurjar , Ankur Jain , Sujata Wangkheimayum , Subhash Varma , Rajesh Vijayvergiya , Pankaj Malhotra","doi":"10.1016/j.bcmd.2025.102921","DOIUrl":"10.1016/j.bcmd.2025.102921","url":null,"abstract":"<div><h3>Background</h3><div>Danazol is frequently used in treating patients with acquired aplastic anaemia (AA) in resource-constraint settings. We aimed to evaluate the cardiometabolic side effects of Danazol in patients with AA.</div></div><div><h3>Methods</h3><div>This prospective study included newly-diagnosed AA patients ≥13 years of age who were eligible for Danazol monotherapy (10 mg/kg/day, capped at 600 mg/day). Lipid profile and two-dimensional echocardiogram were obtained at the baseline and after 6 months of Danazol treatment. Transfusion of blood products and liver function test-based dose adjustments were done as indicated. Pre- and post-treatment parameters were compared using SPSS software version 25.</div></div><div><h3>Results</h3><div>36 patients (median age, 28.5 years) were enrolled. HDL cholesterol decreased by 30 % (p ≤0.001), and LDL cholesterol increased by 11 % (p = 0.002) at the end of 6 months. At the end of 6 months, there was a significant increase in the left ventricular (LV) ejection fraction (p = 0.001), LV mass (p ≤0.001), peak A-velocity (p = 0.01), isovolumetric relaxation time (p = 0.032), and a significant decrease in peak E-velocity (p ≤0.00) and Tei index (p = 0.031). Right ventricular E/A ratio also decreased significantly (p < 0.001).</div></div><div><h3>Conclusions</h3><div>Danazol treatment causes profound dyslipidaemia and potential cardiac dysfunction in patients with AA.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102921"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747489","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

Culprit or innocent bystander? The case of a new fast-moving hemoglobin J variant in a pregnant woman 罪犯还是无辜的旁观者？一种新的快速移动的血红蛋白J变异孕妇的病例

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-05-01 Epub Date: 2025-03-12 DOI: 10.1016/j.bcmd.2025.102920

Ilaria Cerroni , Valeria Renola , Alessia Micalizzi , Ester Romanelli , Lucrezia De Marchi , Giorgia Ranucci , Flavia Mallegni , Elisa Meddi , Federico Moretti , Camilla Page , Antonietta Viola , Giovangiacinto Paterno , Maria Ilaria Del Principe , Stefania Casciani , Adriano Venditti , Sergio Bernardini , Antonio Novelli , Maria Teresa Voso , Carmelo Gurnari

引用次数: 0

Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study 揭示RPS17和SLC4A1在diamond-Blackfan贫血中的作用：一项基于斑马鱼的研究

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-05-01 Epub Date: 2025-02-25 DOI: 10.1016/j.bcmd.2025.102912

Kyeongmin Kim , Hyerin Lee , Soyul Ahn , Yun Hak Kim , Chang-Kyu Oh

{"title":"Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study","authors":"Kyeongmin Kim , Hyerin Lee , Soyul Ahn , Yun Hak Kim , Chang-Kyu Oh","doi":"10.1016/j.bcmd.2025.102912","DOIUrl":"10.1016/j.bcmd.2025.102912","url":null,"abstract":"<div><div>Diamond-Blackfan Anemia (DBA) is a rare congenital disorder characterized by macrocytic anemia, physical abnormalities, and growth delays. Although RPS19 mutations have been more extensively studied in DBA compared to other ribosomal protein genes, the pathological mechanisms of genes such as RPS17 remain largely unexplored. This study aimed to investigate the role of RPS17 haploinsufficiency in DBA, focusing on its downstream effects on erythropoiesis and the involvement of SLC4A1, a critical erythrocyte membrane protein essential for red blood cell stability. Transcriptomic analysis of publicly available RNA sequencing data from DBA patients revealed significant downregulation of SLC4A1 in RPS17-mutated cases. To validate these findings, we generated a zebrafish model of DBA by knocking down <em>rps17</em> using morpholino injections. Zebrafish embryos with <em>rps17</em> knockdown exhibited reduced erythropoiesis, impaired hemoglobin synthesis, consistent with DBA. Further analysis confirmed decreased <em>slc4a1a</em> expression in rps17-morphants. Independent knockdown of <em>slc4a1a</em> in zebrafish resulted in similar erythropoietic defects, highlighting its critical role in red blood cell membrane integrity and function. This study identifies slc4a1 as a key downstream target of RPS17 haploinsufficiency and provides novel insights into the molecular mechanisms of DBA. By establishing zebrafish as an effective in vivo model, this research offers potential therapeutic targets for treating DBA and related erythropoietic disorders.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102912"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143487929","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

Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France 法国镰状β+-地中海贫血基因型及其相关HbA水平的综合分析

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-05-01 Epub Date: 2025-03-29 DOI: 10.1016/j.bcmd.2025.102923

Cecilia Baltus , Stéphane Moutereau , Nathalie Couque , Bichr Allaf , Muriel Giansily-Blaizot , Julian Boutin , Ketty Lee , Emmanuelle Bernit , Estelle Cadet , Victor Bobee , Véronique Picard , Serge Pissard , Frédéric Galactéros , Céline Renoux , Philippe Connes , Patricia Aguilar-Martinez , Corinne Pondarre , Philippe Joly

{"title":"Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France","authors":"Cecilia Baltus , Stéphane Moutereau , Nathalie Couque , Bichr Allaf , Muriel Giansily-Blaizot , Julian Boutin , Ketty Lee , Emmanuelle Bernit , Estelle Cadet , Victor Bobee , Véronique Picard , Serge Pissard , Frédéric Galactéros , Céline Renoux , Philippe Connes , Patricia Aguilar-Martinez , Corinne Pondarre , Philippe Joly","doi":"10.1016/j.bcmd.2025.102923","DOIUrl":"10.1016/j.bcmd.2025.102923","url":null,"abstract":"<div><div>We retrospectively reviewed the clinical records of 228 HbS/β<sup>+</sup>-thal patients. The different genotypes were distributed into three groups according to their mean residual HbA levels: <10 % (group 1; n = 22), between 10 and 20 % (group 2; n = 175) and > 20 % (group 3; n = 31). Routine red blood cells and hemoglobin parameters were compared between the three groups. Sixteen different sickle β<sup>+</sup>-thal genotypes were identified but only four of them were associated with a residual HbA level below 10 %. Patients of this group exhibited a more severe anemia (Hb < 10 g/dL; reticulocytes >200 G/L) compared to the two other groups. However, no difference could be observed on those parameters between patients of group 2 and 3, as well as for the main RBC parameters. According to our study, >80 % of the sickle β<sup>+</sup>-thalassemia patients in France have a residual HbA level beyond 10 % and a mild to moderate anemia. Only four β<sup>+</sup>-thal variations (all affecting the splicing process) would lead to a potentially severe SCD syndrome in association with HbS (HbA < 10 %) but <em>t</em>his result should be confirmed in a prospective clinical study.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102923"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747488","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}

引用次数: 0