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.

[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.

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.

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.

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.

Ankylosing spondylitis (AS) combined with lower cervical fracture is often categorized into unstable fracture, with a high incidence of neurological injury and a high rate of disability and morbidity. As factors such as shoulder occlusion may affect the accuracy of X-ray imaging diagnosis, it is often easily misdiagnosed at the primary diagnosis. Non-operative treatment has complications such as bone nonunion and the possibility of secondary neurological damage, while the timing, access and choice of surgical treatment are still controversial. Currently, there are no clinical practice guidelines for the treatment of AS combined with lower cervical fracture with or without dislocation. To this end, the Spinal Trauma Group of Orthopedics Branch of Chinese Medical Doctor Association organized experts to formulate Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults ( version 2024) in accordance with the principles of evidence-based medicine, scientificity and practicality, in which 11 recommendations were put forward in terms of the diagnosis, imaging evaluation, typing and treatment, etc, to provide guidance for the diagnosis and treatment of AS combined with lower cervical fracture.