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.

From terminal ileum to terminal diagnosis: The critical role of terminal ileum intubation in diagnosing langerhans cell histiocytosis in a patient with TAR syndrome

“…Thrombocytopenia with Absent Radius (TAR) Syndrome is a rare congenital disorder characterized by the absence of the radius bone in the forearm and a significantly reduced platelet count [9 , 10] . The exact etiology of TAR syndrome remains unknown, but it is believed to have a genetic component, with most cases showing autosomal recessive inheritance [2 , 9 , 11] . The diagnosis of TAR syndrome is primarily clinical, based on the characteristic physical findings of bilateral radial aplasia and thrombocytopenia [11] .…”

“…Management involves addressing the hematological and orthopedic aspects. Platelet transfusions and, in some cases, splenectomy are used to manage thrombocytopenia [9 , 10] . Orthopedic interventions, including surgical correction and physical therapy, are employed to improve limb function and quality of life [2 , 11] .…”