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Published on: March 24, 2023
Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene
J Stächele1, T Bakchoul, J Najm
1Julia Stächele, Universitätsklinikum Carl Gustav Carus - Klinik und Poliklinik für Kinder- und Jugendmedizin, Fetscherstr. 74, 01307 Dresden, Germany, Tel. 0351/45818857, Fax 0351/4585788, julia.staechele@uniklinikum-dresden.de.
Abstract:
Congenital thrombocytopenia in childhood and adolescence requires an extensive diagnostic workup to find the underlying reason. We report on a 13-year-old female patient who was incidentally found to have moderate thrombocytopenia which was also diagnosed in her father and brother. Within the microscopic evaluation of a peripheral blood smear macrothrombocytes were found. Immunofluorescence microscopy of the patient's platelets detected the lack of β1-tubulin. Analysis of the TUBB1 gene revealed three known missense variants in heterozygous state which in combination might explain the β1-tubulin defect.
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