Diagnosing Czech Patients with Inherited Platelet Disorders.

ABSTRACT: A single-center study was conducted on 120 patients with inherited disorders of primary hemostasis followed at our hematological center. These patients presented a variety of bleeding symptoms; however, they had no definitive diagnosis. Establishing a diagnosis has consequences for the investigation of probands in families and for treatment management; therefore, we aimed to improve the diagnosis rate in these patients by implementing advanced diagnostic methods. According to the accepted international guidelines at the time of study, we investigated platelet morphology, platelet function assay, light-transmission aggregometry, and flow cytometry. Using only these methods, we were unable to make a definitive diagnosis for most of our patients. However, next-generation sequencing (NGS), whi

SUBMITTER: Louzil J 

PROVIDER: S-EPMC9695320 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature