Ozkan, DidemAkisin, Yasemin ArdicogluBali, Dilara Fatma AkinAkar, NejatTıbbi Laboratuvar Teknikleri / Medical Laboratory Techniques2024-05-252024-05-25202202667-663X10.4328/ACAM.21174https://doi.org/10.4328/ACAM.21174https://hdl.handle.net/20.500.14517/967Aim: Macrothrombocytopenia is a congenital autosomal-dominant blood disorder characterized by increased platelet size and a decreased number of circulating platelets. In this study, it was aimed to show the MYH9 and TUBB1 gene changes, which are the genes associated with the disease, in a patient with thrombocytopenia receiving beta-lactam antibiotic therapy. Material and Methods: In this study, coagulation parameters and platelet aggregation tests were performed after ingestion of a beta-lactam antibiotic in an 8-year-old boy with thrombocytopenia, the MYH9 and TUBB1 genes were scanned by PCR and DNA sequencing, and the results were subsequently analyzed using bioinformatics tools. Results: We found previously described TUBB1 polymorphisms, p.R307H , p.Q43P, p.T178T and the novel mutation p.K64A in the MYH9 gene in a boy and his mother. Changes in genes important for thrombocytopenia in a boy after taking beta-lactam antibiotics prompted us to study the same genes in the mother, since her mother had macrothrombocytopenia, and we found a new mutation in her mother Discussion: Determination of gene changes after beta-lactam antibiotic use in bleeding patients is important in terms of helping the clinic in the treatment.eninfo:eu-repo/semantics/openAccessPlateletsMacrothrombocytopeniaMYH9Article139973977WOS:000863271700007