Article
Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis - 1 Oct 2021
Valikhani Amir, Mirakhorly Mojgan, Namvar Ali, Rastegarlari Ghasem, Toogeh Gholamreza, Shirayeh Fatemeh Vossough, Ahmadinejad Minoo
Abstract excerpt
INTRODUCTION: The diagnosis of hemophilia A (HA) is based on the measurement of factor VIII activity (VIII:C). About one-third of non-severe HA patients show a discrepancy of VIII:C measured by one-stage (VIII:C 1st) and chromogenic (VIII:C chr) assays. Different mutations in the F8 gene may cause the discrepancy in results of the FVIII activity assay. The aim of this study was to investigate F8 gene mutations in...
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