Burden beyond the cure: Iron overload following pediatric stem cell transplantation [0.03%]
儿童干细胞移植后的铁过载：治愈之外的负担
Yonatan Diamond,Alexandra Satty,Lenat Joffe et al.
Yonatan Diamond et al.
Iron overload (IOL) is an increasingly recognized complication among pediatric and young adult survivors of hematopoietic stem cell transplantation (HSCT) contributing to significant morbidity and mortality. The pathogenesis of IOL post-HSC...
A novel ELANE variant causing severe congenital neutropenia diagnosed in adulthood [0.03%]
成人晚期诊断的导致严重先天性中性粒细胞减少症的新ELANE变异型
Renato Cerqueira,Josefina A P Braga,Elyse Moritz et al.
Renato Cerqueira et al.
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 [0.03%]
镰状细胞病患者红细胞膜胆固醇升高的影响：BRN-002（一种2-羟丙基-β-环糊精衍生物）对红细胞脂质、变形性、镰变和溶血的影响
Claire Bordat,Philippe Connes,Philippe Joly et al.
Claire Bordat et al.
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 l...
Pegcetacoplan for the treatment of warm autoimmune hemolytic anemia: a case report [0.03%]
佩加司他单抗治疗温抗体自身免疫性溶血性贫血的病例报告
Eleni Gavriilaki,Paschalis Evangelidis,Maria Mainou et al.
Eleni Gavriilaki et al.
Methodological strategies to study and elucidate RBC properties and their potential clinical impact on transfused patients [0.03%]
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
Emmanuel Längst,Michel Prudent
Emmanuel Längst
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 storag...
Thalidomide confers therapeutic benefit in beta thalassemia patients by enhancing hemoglobin and hematopoietic gene expression: A non-randomized clinical trial [0.03%]
一项非随机临床试验：沙利度胺通过增强血红蛋白和造血基因表达在β型地中海贫血患者中产生治疗效果
Inayat Ur Rahman,Muhammad Tariq Masood Khan,Zahid Ali et al.
Inayat Ur Rahman et al.
Bacground: 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 scientifi...
Hb Lepore Rochester-MN, a novel βδβ double crossover hemoglobin variant [0.03%]
新型βδβ双交换型Lepore-Hb Rochester-MN变异体
Aruna Rangan,Kenneth C Swanson,Michelle Savedra et al.
Aruna Rangan et al.
Introduction: The β-globin gene cluster harbors highly homologous globin genes. Crossover events involving the δ (HBD) and β (HBB) genes result in Lepore (δβ) and anti-Lepore (βδ) hemoglobins (Hbs). Recently, doubl...
Use of ektacytometry in patients with PIEZO1 variants of unknown significance [0.03%]
PIEZO1变异意义不明患者的光学拉普拉斯叠层血细胞计数法使用研究
Guzmán López de Hontanar Torres,Montserrat López Rubio,Rafael Del Orbe Barreto et al.
Guzmán López de Hontanar Torres et al.
An analysis of bone marrow burden scores in a retrospective analysis of adult patients with type 1 Gaucher disease [0.03%]
一项针对I型戈谢病成人患者的回顾性分析的骨髓负荷评分分析
Marie-Claude Miron,Dominick Amato,Rakesh Mohankumar et al.
Marie-Claude Miron et al.
Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations [0.03%]
SBDS和DNAJC21基因变异的骨髓衰竭病例的临床及遗传特征：非典型表现及隐匿性表型
Swetha Palla,Prateek Bhatia,Sudhanshi Raina et al.
Swetha Palla et al.
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 SBDS (SDS1; 260400) gene. Recently, biallelic v...