Blood Cells Molecules and Diseases最新文献

{"title":"A novel ELANE variant causing severe congenital neutropenia diagnosed in adulthood","authors":"Renato Cerqueira , Josefina A.P. Braga , Elyse Moritz , João B. Pesquero , José O. Bordin","doi":"10.1016/j.bcmd.2025.102940","DOIUrl":"10.1016/j.bcmd.2025.102940","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102940"},"PeriodicalIF":2.1,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366427","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}

{"title":"Impact of elevated red blood cell membrane cholesterol in sickle cell anemia patients: Effects of BRN-002, a 2-hydroxypropyl-β-cyclodextrin derivate, on red blood cell lipids, deformability, sickling and hemolysis","authors":"Claire Bordat ,&nbsp;Philippe Connes ,&nbsp;Philippe Joly ,&nbsp;Solene Poutrel ,&nbsp;Carine Halfon-Domenech ,&nbsp;Anne Perez ,&nbsp;Eric Niesor ,&nbsp;Elie Nader","doi":"10.1016/j.bcmd.2025.102939","DOIUrl":"10.1016/j.bcmd.2025.102939","url":null,"abstract":"<div><div>Sickle cell anemia (SCA) patients are characterized by poorly deformable and fragile red blood cells (RBCs). Few studies reported an increased cholesterol content in SCA RBC membrane. However, the consequences of this elevated cholesterol level in the above-mentioned RBC alterations are currently unknown. The aim of this study was to assess, in vitro, the effects of BRN-002 (2-Hydroxypropyl-β-cyclodextrin derivate (HPBCD)), a cholesterol-depleting molecule, on RBC membrane cholesterol, hemolysis and RBC sickling and deformability in SCA patients.</div><div>Forty patients with SCA and 10 healthy individuals (AA) were included in the different experiments of the study. SCA RBCs were incubated with BRN-002 and the following parameters were assessed: i) RBC and supernatant cholesterol content; ii) RBC deformability by oxygen-gradient ektacytometry; iii) hemolysis by measuring free hemoglobin concentration.</div><div>Results confirmed that SCA patients have increased RBC membrane cholesterol compared to AA. BRN-002 effectively removed cholesterol in SCA RBC membrane and reduced free hemoglobin release during incubation. BRN-002 also increased RBC deformability in hypoxia and decreased the pO₂ at which sickling occurs.</div><div>These findings suggest that excess of RBC membrane cholesterol may participate in the typical RBC alterations found in SCA patients. Therefore, interventions focusing on RBC-cholesterol removal may be beneficial for SCA patients.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102939"},"PeriodicalIF":2.1,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262638","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}

{"title":"Pegcetacoplan for the treatment of warm autoimmune hemolytic anemia: a case report","authors":"Eleni Gavriilaki ,&nbsp;Paschalis Evangelidis ,&nbsp;Maria Mainou ,&nbsp;Theodora Maria Venou ,&nbsp;Vasileios Theodoros Vlantos ,&nbsp;Efthymia Vlachaki","doi":"10.1016/j.bcmd.2025.102938","DOIUrl":"10.1016/j.bcmd.2025.102938","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102938"},"PeriodicalIF":2.1,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144178119","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}

{"title":"Thalidomide confers therapeutic benefit in beta thalassemia patients by enhancing hemoglobin and hematopoietic gene expression: A non-randomized clinical trial","authors":"Inayat Ur Rahman ,&nbsp;Muhammad Tariq Masood Khan ,&nbsp;Zahid Ali ,&nbsp;Shafiq Ahmad ,&nbsp;Muhammad Shahid ,&nbsp;Shafaq Zafar ,&nbsp;Faheela Faizi Aamir ,&nbsp;Imran Khan ,&nbsp;Muhammad Ali ,&nbsp;Musharraf Jelani ,&nbsp;Khalid Khan ,&nbsp;Nafees Ahmad ,&nbsp;Yasar Yousafzai ,&nbsp;Afsar Ali Mian ,&nbsp;Sami Siraj","doi":"10.1016/j.bcmd.2025.102936","DOIUrl":"10.1016/j.bcmd.2025.102936","url":null,"abstract":"<div><h3>Bacground</h3><div>Transfusion-dependent β-thalassemia (TDT) requires regular transfusions, often causing iron overload and organ damage. Thalidomide, a fetal hemoglobin (HbF) inducer, may reduce transfusion needs, but scientific data are limited.</div></div><div><h3>Methods</h3><div>This two-arm, non-randomized clinical trial followed a total of 164 TDT patients over 30 months: 72 received thalidomide and 92 underwent standard transfusions. Complete blood count was assessed at baseline and 6, 12, 18, 24, and 30 months. SNP genotyping and β-globin mutation analysis were performed using sanger sequencing. <em>GATA-1</em> and <em>KLF</em> gene expression were assessed at baseline and after 30 months via qRT-PCR</div></div><div><h3>Results</h3><div>Hemoglobin level in the thalidomide group significantly increased from 6.12 ± 0.65 g/dL to 8.36 ± 2.04 g/dL (<em>p</em> &lt; 0.001). Among thalidomide-treated patients, 34.7 % were excellent responders (ER), 25 % good responders (GR), 13.9 % partial responders (PR), and 26.4 % non-responders (NR). ERs showed the highest <em>GATA-1</em> [3.09 (IQR 2.0–3.38)] and <em>KLF</em> [3.24 (IQR 3.01–5.42)] expression levels (p &lt; 0.001). Better response was observed in patients with AFT &gt;12 months and those carrying the minor allele C at <em>HBS1L-MYB</em> rs9399137 (<em>p</em> &lt; 0.05)</div></div><div><h3>Conclusion</h3><div>Thalidomide effectively increases hemoglobin levels and reduces transfusion needs in TDT patients, particularly through upregulation of <em>GATA-1</em> and <em>KLF</em>. AFT and SNP genotype at <em>HBS1L-MYB</em> rs9399137 may help predict response</div></div><div><h3>Trial registration</h3><div><span><span>ClinicalTrials.gov</span><svg><path></path></svg></span> ID: <span><span>NCT06146478</span><svg><path></path></svg></span></div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102936"},"PeriodicalIF":2.1,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170590","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}

{"title":"Hb Lepore Rochester-MN, a novel βδβ double crossover hemoglobin variant","authors":"Aruna Rangan,&nbsp;Kenneth C. Swanson,&nbsp;Michelle Savedra,&nbsp;Xi Zhang,&nbsp;James D. Hoyer,&nbsp;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":"2025-05-23","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}

{"title":"Methodological strategies to study and elucidate RBC properties and their potential clinical impact on transfused patients","authors":"Emmanuel Längst ,&nbsp;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":"2025-05-18","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}

{"title":"Use of ektacytometry in patients with PIEZO1 variants of unknown significance","authors":"Guzmán López de Hontanar Torres ,&nbsp;Montserrat López Rubio ,&nbsp;Rafael del Orbe Barreto ,&nbsp;Joan-Lluis Vives Corrons ,&nbsp;Elena Krishnevskaya ,&nbsp;Pedro Antonio Rodríguez Barquero ,&nbsp;José María Aspa Cilleruelo ,&nbsp;Lucía Castilla García","doi":"10.1016/j.bcmd.2025.102934","DOIUrl":"10.1016/j.bcmd.2025.102934","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102934"},"PeriodicalIF":2.1,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144089592","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}

{"title":"An analysis of bone marrow burden scores in a retrospective analysis of adult patients with type 1 Gaucher disease","authors":"Marie-Claude Miron ,&nbsp;Dominick Amato ,&nbsp;Rakesh Mohankumar ,&nbsp;Orla Drumm ,&nbsp;Graeme Nimmo","doi":"10.1016/j.bcmd.2025.102933","DOIUrl":"10.1016/j.bcmd.2025.102933","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102933"},"PeriodicalIF":2.1,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144083919","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}

{"title":"Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations","authors":"Swetha Palla ,&nbsp;Prateek Bhatia ,&nbsp;Sudhanshi Raina ,&nbsp;Sreejesh Sreedharanunni ,&nbsp;Alka Khadwal ,&nbsp;Arihant Jain ,&nbsp;Pankaj Malhotra ,&nbsp;Minu Singh ,&nbsp;Amita Trehan","doi":"10.1016/j.bcmd.2025.102924","DOIUrl":"10.1016/j.bcmd.2025.102924","url":null,"abstract":"<div><div>Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure disorder presenting with early onset cytopenia, chronic diarrhea, and failure to thrive with biallelic pathogenic variants in the <em>SBDS</em> (SDS1; 260400) gene. Recently, biallelic variants in <em>DNAJC21</em> (BMFS3; 617052) and <em>ELF1</em> genes have also been shown to be related to SDS-like phenotype. Additionally, a monoallelic variant of the <em>SBDS</em> gene has been linked to the development of idiopathic aplastic anemia (IAA). We screened 405 marrow failure cases and noted 10 different SDS gene variants in 3 % (11/405) cases, of which 2 (20 %) were novel; <em>DNAJC21</em> variant c.98-2delA and <em>SBDS</em> variant c.359T&gt;C. In this report, we highlight the detailed phenotype and genotype of these cases and emphasize cryptic and atypical presentations.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102924"},"PeriodicalIF":2.1,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800033","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}

{"title":"Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France","authors":"Cecilia Baltus ,&nbsp;Stéphane Moutereau ,&nbsp;Nathalie Couque ,&nbsp;Bichr Allaf ,&nbsp;Muriel Giansily-Blaizot ,&nbsp;Julian Boutin ,&nbsp;Ketty Lee ,&nbsp;Emmanuelle Bernit ,&nbsp;Estelle Cadet ,&nbsp;Victor Bobee ,&nbsp;Véronique Picard ,&nbsp;Serge Pissard ,&nbsp;Frédéric Galactéros ,&nbsp;Céline Renoux ,&nbsp;Philippe Connes ,&nbsp;Patricia Aguilar-Martinez ,&nbsp;Corinne Pondarre ,&nbsp;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⁺-thal patients. The different genotypes were distributed into three groups according to their mean residual HbA levels: &lt;10 % (group 1; n = 22), between 10 and 20 % (group 2; n = 175) and &gt; 20 % (group 3; n = 31). Routine red blood cells and hemoglobin parameters were compared between the three groups. Sixteen different sickle β⁺-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 &lt; 10 g/dL; reticulocytes &gt;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, &gt;80 % of the sickle β⁺-thalassemia patients in France have a residual HbA level beyond 10 % and a mild to moderate anemia. Only four β⁺-thal variations (all affecting the splicing process) would lead to a potentially severe SCD syndrome in association with HbS (HbA &lt; 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":"2025-03-29","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}