Blood Cells Molecules and Diseases最新文献

{"title":"Pegcetacoplan for the treatment of warm autoimmune hemolytic anemia: a case report","authors":"Eleni Gavriilaki , Paschalis Evangelidis , Maria Mainou , Theodora Maria Venou , Vasileios Theodoros Vlantos , 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}

{"title":"Danazol causes significant changes in the cardiometabolic profile of patients with acquired aplastic anaemia","authors":"Hitesh Gurjar ,&nbsp;Ankur Jain ,&nbsp;Sujata Wangkheimayum ,&nbsp;Subhash Varma ,&nbsp;Rajesh Vijayvergiya ,&nbsp;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 &lt; 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":"2025-03-26","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}

{"title":"Factors associated with the occurrence of leg ulcers in people with sickle cell disease: A case-control study","authors":"Josimare Aparecida Otoni Spira ,&nbsp;Mery Natali Silva Abreu ,&nbsp;Antônio Carlos Martins Guedes ,&nbsp;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":"2025-03-22","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}