Abstract Number: PB1439
Meeting: ISTH 2020 Congress
Background: Inherited thrombocytopenia is a heterogeneous group of diseases with clinical and laboratory features. They may show autosomal recessive, dominant or X-linked recessive inheritance. The number of genes and mutations is gradually increasing. It may be caused by pathologies in the early and late stages of platelet production or the functional impairment of platelets may be seen.
Aims: The aim of this study is to present the genetic analysis results of patients who were sent to our clinic with the pre-diagnosis of ITP and considered inherited thrombocytopenias.
Methods: Patients were referred to our center from around seven cities and included those suspected of ITP. Genomic DNA was isolated from peripheral blood core cells. Libraries covering 12 genes were prepared according to the QIAseq Targeted DNA Panel (Thrombocytopenia Panel MPL, GP9, CYCS, ADAMTS13, ANKRD26, MPL, GP1BA, RUNX1, GP1BB, MYH9, WAS, GATA1) protocol and sequenced in Illumina MiSeQ system.
Results: Mutations were detected in the MYH9 gene in eight patients, the WAS gene in nine patients, the ANKRD26 gene in two patients, the GP9 gene in one patient, the GP1BB gene in one patient, the RUNX1 gene in one patient, the MPL gene in one patient, and the CYCS gene in one patient. Inherited thrombocytopenia mutation was found in 24 patients. Nineteen of the patients were male and five were female. Families were informed about the genetic transition and screened. Treatments such as apheresis platelet administration or allogeneic stem cell transplantation were planned according to their genetic diagnosis.
Conclusions: The first diagnosis of most patients presenting with thrombocy genetic analyzestopenia is ITP. However, the detailed history of the patient and his family, physical examination findings, and responses to treatments suggest inherited thrombocytopenia.Genetic analyzes is very important to make definitive diagnosis. It provides patients with the most appropriate treatment and provides genetic counseling to the family.
To cite this abstract in AMA style:Albayrak C, Albayrak D, Gürkan H. Genotypic Analysis at Transition from Idiopatic Thrombocytopenic Purpura to Inherited Trombocytopenia [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/genotypic-analysis-at-transition-from-idiopatic-thrombocytopenic-purpura-to-inherited-trombocytopenia/. Accessed January 28, 2022.
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