Inherited thrombocytopenia is a group of heterogeneous inherited diseases mainly characterized by platelet count defects. It is a monogenic disease caused by mutations in various genes. Animal models are crucial for studying the pathogenesis and treatment strategies of inherited thrombocytopenia. Previous reviews on animal models of inherited thrombocytopenia have mostly focused on a single species, such as mice or zebrafish. This article systematically summarizes the construction, phenotypes, and characteristics of multiple animal models (mice, zebrafish, and primate animal) of inherited thrombocytopenia-causing genes, thereby providing a systematic reference for a comprehensive understanding of the research progress of its animal models.

Autologous blood donation is an important strategy of blood conservation. The Administrative Measures for the Clinical Use of Blood in Medical Institutions (Order No. 85 of the National Health Commission) requires medical institutions to promote the implementation of autologous blood donation actively. The clinical practice guidelines for patient blood management also recommend the proactive use of autologous blood donation to reduce the reliance on allogeneic blood. Preoperative autologous blood donation (PABD) is one of the autologous blood donation with wide range of indications, easy to operate, and can effectively reduce the transfusion of allogeneic blood. However, the performance of PABD in China is unsatisfactory due to various factors such as the patient composition of medical institutions, the implementation of outpatient department of blood transfusion, the level of attention paid to this issue, and the fact that traditional PABD do not meet clinical requirements. Therefore, improving the PABD model and exploring new PABD technology, as well as promoting their clinical application, are critical measures to meet the development requirements of patient blood management and to alleviate the shortage of blood supply. This article summarizes the improvements in the PABD model, and a novel PABD technology of PABD—preoperative deep apheresis of autologous red blood cells and/or platelets (deep apheresis autologous blood storage technology), and the current situation of clinical application of PABD to provide paradigm for clinical transfusion.

Thrombocytopenia 2 (THC2) is an autosomal dominant hematologic disorder caused by germline mutations in the ANKRD26 gene, characterized primarily by persistent thrombocytopenia and a predisposition to myeloid neoplasms. Owing to nonspecific clinical presentation and limited disease awareness, THC2 is frequently underdiagnosed or misdiagnosed, potentially leading to inappropriate interventions. This article systematically outlines the clinical manifestations, pathogenesis, and strategies for the precise diagnosis and treatment of THC2, aiming to provide a theoretical basis and practical guidance for its clinical management and for the in-depth investigation of its pathogenesis.

Inherited thrombocytopenia (IT) is a group of rare hereditary platelet disorders characterized by reduced platelet counts and, sometimes accompanied by platelet dysfunction. This review comprehensively summarizes various cell models used in IT research, which are derived from different sources, including patient-derived primary cells (such as megakaryocytes, platelets, and hematopoietic stem and progenitor cells), stem cell lines (encompassing both adult and pluripotent stem cells), and immortalized megakaryocyte cell lines derived from tumor cells. These cell models provide an indispensable research platform for in-depth exploration of the pathogenesis of IT, screening of potential therapeutic drugs, and evaluation of drug efficacy. Additionally, this review delves into the research progress of utilizing gene editing technologies to simulate IT-causing mutations and their pathogenic mechanisms, and summarizes the application prospects and challenges of in vitro cell models in the field of IT research.

Inherited thrombocytopenia refers to a group of rare hereditary disorders characterized by a sustained reduction in platelet count. Different genetic mutations are associated with diverse clinical manifestations and prognoses, with certain mutations even predisposing to hematological malignancies. Next-generation sequencing (NGS) has enabled efficient identification of pathogenic variants in relevant genes, significantly advancing research progress, and numerous genes have been implicated in these disorders. This review expands the scope of relevant genes, refines the classification mechanism, and is not limited to a single population compared to previous research. It focuses on elucidating the genetic etiology and pathological mechanisms of inherited thrombocytopenia, while highlighting the critical role of identifying germline mutations in achieving precise diagnosis.

[Objective] To identify the ABO blood group of a patient with rare B antigen-specific autoantibody with cold agglutinin, and evaluate the effect of blood transfusion. [Methods] Red blood cells of patient were washed with 37℃ physiological saline and treated with sulfhydryl reagent. ABO blood group antigen was detected by tube method and microcolumn gel method. After the cold agglutinin was removed by EDTA anticoagulant plasma absorbed by type O red blood cells at 4℃, the related blood group antibodies were detected by type B red blood cells absorbing and releasing liquid at 4℃. The blood transfusion effect of patients was evaluated by the changes of hemoglobin before and after transfusion, and their ABO blood group was continuously monitored. [Results] B antigen was detected in the positive setting of serological experiment, cold agglutinin was detected by absorption and elution of type O red blood cells, and anti-B antibody was detected by absorption and elution of type B red blood cells. That is, there was specific autoantibody against B antigen, and the antibody property was IgM. No adverse reactions occurred during the infusion of 3 U type O washed red blood cells and the infusion was effective. The patient was continuously followed for two months, and the forward and reverse blood group identification were consistent, both of which were type B. [Conclusion] According to the previous blood group identification results, serological identification and follow-up comprehensive analysis, the ABO blood group of the patient is type B, but there are transient high titer cold agglutinin and B antigen-specific autoantibodies.

Objective This study analyzes the optical coherence tomography(OCT)characteristics of patients with symptomatic carotid artery stenosis(CAS)prior to carotid stenting and the influencing factors associated with symptomatic CAS.Methods This study retrospectively included consecutive CAS patients who underwent carotid OCT examination prior to carotid stenting at Department of Nerolgical Intervention and Nerological Intensive Care,Central Hospital of Dalian University of Technology(Dalian Municipal Central Hospital)from November 2022 to November 2024.Patients were categorized into symptomatic and asymptomatic CAS groups.General clinical data and laboratory test results were collected and compared between the two groups,including age,sex,body mass index,systolic and diastolic blood pressure(measured on the morning of procedure without antihypertensive medication intervention with patient at resting state for over 30 minutes),medical history(including hypertension,diabetes,atrial fibrillation,coronary heart disease,stroke,and transient ischemic attack),smoking history,alcohol consumption history,and fasting laboratory results obtained on the morning before procedure laboratory results(including,white blood cell count,red blood cell count,monocyte percentage,neutrophil percentage,lymphocyte percentage,platelet count,blood creatinine,blood glucose,international normalized ratio,D-dimer,total cholesterol,triglycerides,homocysteine,low-density lipoprotein cholesterol,and high-density lipoprotein cholesterol).Additionally,OCT image parameters were collected and compared between the two groups,including the minimum lumen diameter and minimum lumen area of the target lesion segment,the distal lumen diameter and area of the reference vessel(internal carotid artery),the percentage of lumen area stenosis([reference vessel lumen cross-sectional area-minimum lumen cross-sectional area]/reference vessel lumen cross-sectional area×100%),the lesion length,fibrous cap thickness,lipid arc,and the presence of fibrous plaques,calcified plaques,lipid plaques,white thrombus,cholesterol crystals,macrophage infiltration,microchannels,and plaque rupture.Variables with P＜0.05 from univariate analysis were included in the multivariate Logistic regression analysis to assess the influencing factors of symptomatic CAS.Results A total of 68 patients with CAS were enrolled,comprising 57males and 11females,aged 53 to 84 years with a mean age of(68±7)years.Among them,32 patients were categorized into the symptomatic CAS group and 36 into the asymptomatic CAS group.(1)Compared to the asymptomatic CAS group,patients in the symptomatic CAS group exhibited higher systolic blood pressure([150±23]mmHg vs.[138±21])mmHg,P=0.025).There were no statistically significant differences in general,clinical data,and laboratory test results between the two groups(all P＞0.05).The preoperative OCT imaging parameters comparison between the two groups of CAS patients revealed that the reference vessel distal lumen area was significantly smaller in the symptomatic CAS group([18.67±5.44]mm2 vs.[21.95±5.57]mm2,P=0.017),and the proportion of patients with white thrombus(40.62%[13/32]vs.13.89%[5/36],P=0.013)and microchannels(21.88%[7/32]vs.2.78%[1/36],P=0.014)were higher.(2)A multivariate Logistic regression analysis was conducted using systolic blood pressure,white thrombus,microchannels,and the reference vessel(internal carotid artery)distal lumen area as independent variables.The results indicated that high systolic blood pressure(OR,1.030,95%CI 1.002-1.060,P=0.038),and the presence of white thrombus(OR,3.956,95%CI 1.072-14.600,P=0.039)and microchannels(OR,13.850,95%CI 1.277-150.203,P=0.031)were independent risk factors for symptomatic CAS.Conclusions Compared to patients with asymptomatic CAS,those with symptomatic CAS exhibited higher preoperative(pre-carotid stenting)systolic blood pressure and a smaller distal lumen area of the reference vessel(internal carotid artery),as observed through OCT.Furthermore,a higher proportion of symptomatic CAS patients presented with white thrombus and microchannels.Preoperative systolic blood pressure,along with the presence of white thrombus and microchannels on OCT,are identified as independent risk factors for symptomatic CAS.The conclusions drawn from this study necessitate further validation through large-scale,multicenter,prospective research.