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

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.

Publikationsverlauf

Eingereicht: 16. Februar 2023

Angenommen: 31. Mai 2023

Artikel online veröffentlicht:
23. August 2023

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