Beta-lactam antibiotic-induced thrombocytopenia: MYH9 & TUBB1 genes
Küçük Resim Yok
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Bayrakol Medical Publisher
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Aim: 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.
Açıklama
Anahtar Kelimeler
Platelets, Macrothrombocytopenia, MYH9
Kaynak
Annals of Clinical and Analytical Medicine
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
13
Sayı
9
