Article
Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland.
Thrombosis research - 1 Sept 2020
Janczar Szymon, Babol-Pokora Katarzyna, Jatczak-Pawlik Izabela, Taha Joanna, Klukowska Anna, Laguna Pawel, Windyga Jerzy, Odnoczko Edyta, Zdziarska Joanna, Iwaniec Teresa, Koltan Andrzej, Jamrozik Michał, Rurańska Iwona, Janczar Karolina, Szczepański Tomasz, Pietrys Danuta, Balwierz Walentyna, Treliński Jacek, Mlynarski Wojciech
Abstract excerpt
INTRODUCTION: Female hemophilia is an intriguing rare disorder and few larger reports on its genetic etiology are available. While historically the diagnosis was satisfactorily reached by factor VIII activity assays, the clinical and potentially therapeutic heterogeneity of female hemophilia calls for comprehensive molecular diagnosis in each case. Currently, the genetic investigations are not a part of routine,...
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