Article
Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions.
International journal of molecular sciences - 24 Jul 2023
Dardik Rima, Janczar Szymon, Lalezari Shadan, Avishai Einat, Levy-Mendelovich Sarina, Barg Assaf Arie, Martinowitz Uri, Babol-Pokora Katarzyna, Mlynarski Wojciech, Kenet Gili
Abstract excerpt
Hemophilia A (HA), a rare recessive X-linked bleeding disorder, is caused by either deficiency or dysfunction of coagulation factor VIII (FVIII) resulting from deleterious mutations in the F8 gene encoding FVIII. Over the last 4 decades, the methods aimed at determining the HA carrier status in female relatives of HA patients have evolved from phenotypic studies based on coagulation tests providing merely...
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