Article
X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers.
European journal of human genetics : EJHG - 1 Feb 2021
Garagiola Isabella, Mortarino Mimosa, Siboni Simona Maria, Boscarino Marco, Mancuso Maria Elisa, Biganzoli Marina, Santagostino Elena, Peyvandi Flora
Abstract excerpt
Haemophilia A and B are X-linked hemorrhagic disorders caused by gene variants in the F8 and F9 genes. Due to recessive inheritance, males are affected, while female carriers are usually asymptomatic with a wide range of factor VIII (FVIII) or IX (FIX) levels. Bleeding tendency in female carriers is extremely variable and may be associated with low clotting factor levels. This could be explained by F8 or F9...
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