Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*) [0.03%]
两个无关的血友病V因子缺乏症家系分子及临床特征研究，包括一个新颖的无义突变(p.Gln1532*)
Ke Zhang,Longying Ye,Yanhui Jin et al.
Ke Zhang et al.
Background: Factor V (FV) is an essential cofactor in the coagulation cascade. The characterization of novel mutations is advantageous for the clinical management of FV-deficient patients. ...
Bach1 inhibitor HPP-D mediates γ-globin gene activation in sickle erythroid progenitors [0.03%]
Bach1抑制剂HPP-D介导了镰状细胞病红系祖细胞中γ-珠蛋白基因的激活
Chithra D Palani,Xingguo Zhu,Manickam Alagar et al.
Chithra D Palani et al.
Sickle cell disease (SCD) is the most common β-hemoglobinopathy caused by various mutations in the adult β-globin gene resulting in sickle hemoglobin production, chronic hemolytic anemia, pain, and progressive organ damage. The best thera...
Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19 [0.03%]
对SARS-CoV-2感染和COVID-19患者的血液学参数进行基因检测
Quan Sun,Bryce Rowland,Wanjiang Wang et al.
Quan Sun et al.
People hospitalized with COVID-19 often exhibit altered hematological traits associated with disease prognosis (e.g., lower lymphocyte and platelet counts). We investigated whether inter-individual variability in baseline hematological trai...
A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country [0.03%]
儿童未诊断贫血的逐步诊疗方法：低收入和中等收入国家模型
Nihal Hussien Aly,Mohsen Saleh Elalfy,Safinaz Adel Elhabashy et al.
Nihal Hussien Aly et al.
Background: Reaching a precise diagnosis in rare inherited anemia is extremely difficult and challenging, especially in areas with limited use of genetic studies, which makes undiagnosed anemia a unique clinical entity in...
Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1 [0.03%]
下一代测序(NGS)在解析红细胞分子缺陷与红细胞疾病关联中的兴趣：PIEZO1、光谱蛋白ß1、RhAG和SLC4A1突变遗传患者的临床和红细胞表型特征
Benoit Allegrini,Ludivine David NGuyen,Morgane Mignotet et al.
Benoit Allegrini et al.
We report here an instructive case referred at 16 months-old for exploration of hemolysis without anemia (compensated anemia with reticulocytosis). The biology tests confirmed the hemolysis with increased total and indirect bilirubin. The u...
Up-regulation of microRNA 101-3p during erythropoiesis in β-thalassemia/HbE [0.03%]
微小核糖核酸101-3p在β-地中海贫血/HbE病态造血红系分化中的上调作用
Phatchariya Phannasil,Chanyanat Sukhuma,Donny Nauphar et al.
Phatchariya Phannasil et al.
Ineffective erythropoiesis is the main cause of anemia in β-thalassemia. The crucial hallmark of ineffective erythropoiesis is the high proliferation of erythroblast. microRNA (miR/miRNA) involves several biological processes, including ce...
Tomas Ganz,Elizabeta Nemeth
Tomas Ganz
Iron is an essential nutrient for microbes, plants and animals. Multicellular organisms have evolved multiple strategies to control invading microbes by restricting microbial access to iron. Hypoferremia of inflammation is a rapidly-acting ...
Mouse models of sickle cell disease: Imperfect and yet very informative [0.03%]
不完美的却很有信息量的镰状细胞病小鼠模型
Sayuri Kamimura,Meghann Smith,Sebastian Vogel et al.
Sayuri Kamimura et al.
The root cause of sickle cell disease (SCD) has been known for nearly a century, however, few therapies to treat the disease are available. Over several decades of work, with advances in gene editing technology and after several iterations ...
Acquired elliptocytosis in chronic myeloid neoplasms: An enigmatic relationship to acquired red cell membrane protein and genetic abnormalities [0.03%]
获得性椭圆形红细胞增多症与慢性骨髓瘤的关系：获得性红细胞膜蛋白和遗传异常的神秘关系
Marshall A Lichtman,Ronald Sham
Marshall A Lichtman
Nineteen reports of 41 cases of acquired red cell elliptocytosis associated with a chronic myeloid neoplasm are described. Although the majority of cases have an abnormality of the long arm of chromosome 20, del(q20), several cases do not. ...
Essential genetic modifiers and their measurable impact in a community-recruited population analysis for non-severe hemoglobin E/β-thalassemia prenatal genetic counseling [0.03%]
基于社区招募人群的非严重α-地中海贫血遗传咨询中必需的遗传修饰因素及其可测量影响
Peerapon Wong,Thirabhat Chitsobhak,Suporn Jittasathian et al.
Peerapon Wong et al.
The study aimed to identify essential phenotype-modulating factors among the pre-existence of several important ones and clarify their measurable impact on the clinical severity of hemoglobin (Hb) E/β-thalassemia in a community-recruited p...