Abstract
Introduction
Haemophilia A (HA, MIM 306700) is an X-linked recessive disease due to deficiency of coagulation factor VIII caused by mutations in the factor 8 (F8) gene1. The disease occurs in males while female carriers are typically asymptomatic1. In rare cases HA may occur in females. In the Italian Registry of Congenital Coagulation Disorders (2014 update), 29 female patients are reported out of 3,906 registered cases of HA. Among them, the large majority had mild haemophilia (n=25), whereas two women were diagnosed with severe HA and the other two with moderate HA2. The specific conditions underlying HA in women are: (i) a mutant gene in an X-0 female3,4; (ii) a mutant gene in an X chromosome plus extreme inactivation of the wild-type X chromosome5; and (iii) a female homozygous or compound heterozygous for two mutant F8 genes6. Here we report two cases recently diagnosed at our Centre (in the region of Campania, Southern Italy) with de novo mutations that had unusual and relevant clinical implications. [...]
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