Luigi Villa Foundation

Luigi Villa Foundation

HEMOPHILIA

The term "hemophilia" refers to the genetic bleeding disorders that are transmitted through the "X" chromosome. Two different types of Hemophilia need be distinguished:
	- Hemophilia A: caused by the deficiency or drop of the Factor VII (FVIII) (sette o otto?) of the coagulation. The frequency of hemophilia A is 1 case out of 10.000 births.
	- Hemophilia B: caused by the defect of the Factor IX (FIX) of the coagulation, and with a frequency of 1 case out of 60.000 births.
From the clinical point of view, the two pathologies are hardly distinguishable; in fact, a correct diagnosis can be performed only after specific tests. The gravity of the clinic manifestations is strictly related to the quantity of the specific factors in the patient's plasma. It is possible to distinguish three types of manifestation: severe, moderate and slight. The patients with a grave hemophilia present frequent and often spontaneous hemorrhages; the patients with a moderate hemophilia present prolonged bleeding only after serious trauma or clinical surgery. The hemorrhage can occur in various points. Nevertheless, the most frequent and typical manifestation is the intrarticular or hemarthron hemorrhage

Diagnosis of hemophilia
Reproductive assistance to HIV discordant couples

Research lines:
	- Genetic base of the inhibitor's development in severe A hemophilia
	- Determination of fetus's sex and prenatal diagnosis of A hemophilia