Hamostaseologie 2023; 43(04): 252-260
DOI: 10.1055/a-2088-1801
Review Article

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

Gabriele Strauss
1   Department of Paediatric Haematology and Oncology, Helios-Klinikum Buch, Berlin, Germany
,
Kristina Mott 
2   Institute of Experimental Biomedicine I, University Hospital Würzburg, Würzburg, Germany
,
Eva Klopocki
3   Institute of Human Genetics, University of Würzburg, Würzburg, Germany
,
Harald Schulze 
2   Institute of Experimental Biomedicine I, University Hospital Würzburg, Würzburg, Germany
4   Center for Rare Blood Cell Disorders, Center for Rare Diseases, University Hospital Würzburg, Würzburg, Germany
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Abstract

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, we 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.

Keywords

thrombocytopenia absent radius syndrome - thrombocytopenia - genetic variants - hematopoiesis - bone marrow failure - blood platelet disorders - skeletal malformation - fertility - self-empowerment

Authors' Contributions

G.S. treated patients and wrote the manuscript. K.M. and H.S. performed TAR diagnostics and wrote the manuscript. E.K. performed genetic diagnostics of TAR syndrome and wrote the manuscript.


Competing Interests

The authors declare no competing interests.




Publication History

Received: 16 February 2023

Accepted: 31 May 2023

Article published online:
23 August 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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