Hämostaseologie | 遗传性血小板疾病 2023-09-07


本刊提供严格的同行评审和高编辑标准,确保发表高质量的科学研究。 在Hämostaseologie上发表论文可以提高作者研究的知名度和影响力,接触到广泛的专家受众,并为止血和血栓形成知识的进步做出贡献。

Cutting-Edge Research

血小板是止血的关键驱动因素。 血小板计数低、血小板粘附和聚集功能障碍导致出血倾向增加。 遗传性血小板疾病(IPD)是一组高度异质性的罕见疾病,具有不同的出血倾向。 IPD 可能与其他通常被称为“综合征”的体征和症状有关。 潜在的遗传缺陷可能使患者容易患上白血病等造血系统疾病。 在过去的十年中,遗传学知识的积累导致许多“新”血小板疾病的检测。 然而,仍有许多患有明显血小板功能障碍的患者直到发生严重出血才被发现。

简而言之,Hämostaseologie 本期上发表的论文为IPD诊断测试和治疗方案在现实世界中的应用提供了最新证据。内容包括文献信息以及THROMKIDplus工作组在2022年9月于奥地利因斯布鲁克(Innsbruck)附近的伊格尔斯(Igls)举行的GTH "Ständige Kommission Pädiatrie "会议期间的个人交流,对已出版的指南和综述中的信息进行了扩展和更新。


Review Article

State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders

Gebetsberger et al.

Inherited platelet disorders (IPDs) are a heterogeneous group of rare entities caused by molecular divergence in genes relevant for platelet formation and function. A rational diagnostic approach is necessary to counsel and treat patients with IPDs. With the introduction of high-throughput sequencing at the beginning of this millennium, a more accurate diagnosis of IPDs has become available. The authors discuss advantages and limitations of genetic testing, technical issues, and ethical aspects. Additionally, they provide information on the clinical significance of different classes of variants and how they are correctly reported.

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Review Article

Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment

Strauss et al.

Thrombocytopenia absent radius (TAR) syndrome is a rare form of hereditary thrombocytopenia associated with a bilateral radial aplasia. TAR syndrome is genetically defined by the combination of a microdeletion on chromosome 1 which includes the gene RBM8A, and a single nucleotide polymorphism (SNP) in the second RBM8A allele. While most patients with TAR syndrome harbor a SNP in either the 5′ UTR region or in intron 1 of RBM8A, further SNPs associated with TAR syndrome are still being identified. Here, the authors report on the current understanding of the genetic basis, diagnosis, and therapy of TAR syndrome and discuss patient self-empowerment by enabling networking and exchange between affected individuals and families.

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Review Article

Treatment of Inherited Platelet Disorders: Current Status and Future Options

Bargehr et al.

Inherited platelet disorders (IPDs) comprise a heterogeneous group of entities that manifest with variable bleeding tendencies. For successful treatment, the underlying platelet disorder, bleeding severity and location, age, and sex must be considered in the broader clinical context. Previous information from the AWMF S2K guideline #086–004 ( is evaluated for validity and supplemented by information of new available and future treatment options and clinical scenarios that need specific measures. Special attention is given to the treatment of menorrhagia and risk management during pregnancy in women with IPDs. Established treatment options of IPDs include local hemostatic treatment, tranexamic acid, desmopressin, platelet concentrates, and recombinant activated factor VII. Hematopoietic stem cell therapy is a curative approach for selected patients. Bargehr et al also provide an outlook on promising new therapies. These include autologous hematopoietic stem cell gene therapy, artificial platelets and nanoparticles, and various other procoagulant treatments that are currently tested in clinical trials in the context of hemophilia.

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