Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing

Classification of the X-linked recessive bleeding disorder Hemophilia A (HA) is based on residual Factor VIII activity level (FVIII:C) that largely correlates with bleeding severity. Understanding the underlying basis for bleeding phenotypes differing from those predicted by FVIII:C should refine classification of patients, clarify genotype-phenotype correlations, and improve clinical management of persons with HA.

Source: Thrombosis Research - May 27, 2020 Category: Hematology Authors: Peter H. Cygan, Sarah E. Arnold-Croop, Elizabeth A. Weidman, Fang Chen, Dajiang J. Liu, M. Elaine Eyster, Laura Carrel Tags: Letter to the Editors-in-Chief Source Type: research