@article{ATM21055,
author = {Massimo Franchini and Giuseppe Marano and Simonetta Pupella and Stefania Vaglio and Francesca Masiello and Eva Veropalumbo and Vanessa Piccinini and Ilaria Pati and Liviana Catalano and Giancarlo Maria Liumbruno},
title = {Rare congenital bleeding disorders},
journal = {Annals of Translational Medicine},
volume = {6},
number = {17},
year = {2018},
keywords = {},
abstract = {The rare congenital bleeding disorders are a heterogeneous group of diseases which include
deficiencies of fibrinogen, prothrombin and factors V, V + VIII, VII, X, XI and XIII. They are usually
transmitted as autosomal recessive disorders, and the prevalence of the severe forms ranges from one case
in 500,000 for factor VII up to one in 2,000,000 for factor XIII in the general population. Patients with rare
congenital bleeding disorders may have a broad spectrum of clinical symptoms, ranging from mucocutaneous
bleeding to life-threatening haemorrhages, such as those occurring in the central nervous system. The
treatment of these disorders is based principally on the replacement of the deficient factor using, when
available, specific plasma-derived or recombinant products.},
issn = {2305-5847}, url = {https://atm.amegroups.org/article/view/21055}
}