Benign Thrombocytopenia in Childhood and Novel TURBB1, ANKRD26, and SAMD9 Variants

Authors : Hatice Mine Çakmak, Yaşar Bildirici

Pages : 85-91

View : 94 | Download : 84

Publication Date : 2023-10-31

Article Type : Research Paper

Abstract :Aim: Thrombocytopenia is a common hematologic finding in children. This study evaluated the demographic, laboratory and genetic characteristics and prognosis of children with thrombocytopenia. Material and Method: This retrospective study included children (n=82) examined with thrombocytopenia at Düzce University Faculty of Medicine Pediatric Hematology-Oncology Clinic between December 2021 and August 2023. Laboratory, clinical, and treatment characteristics of patients with idiopathic thrombocytopenic purpura (n=41) and without thrombocytopenia (n=41) were compared. Gene analysis was performed by clinical exome next-generation sequencing in selected cases. Results: Children without idiopathic thrombocytopenic purpura (ITP) (n=41) had higher rates of fever (p G (p. Arg114Gly) variant, a 002G>A (p. Asp668Asn) variant in the ANKRD26 gene in the SAMD9 gene and in the TUBB1 gene a 1342 G>T (p. Asp448Tyr) variant. The new TUBB1 variant was consistent with the patient’s clinical presentation. Conclusion: Infection-associated thrombocytopenia improves faster with higher platelet counts than ITP. Clinical exome next-generation sequencing analysis is recommended in cases with atypical ITP to diagnose congenital macrothrombocytopaenia.
Keywords : ÇOCUK, İdiyopatik trombositopenik purpura, moleküler genetik, trombositopeni

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