Hemophilia is a hereditary condition where a protein of the blood needed for clotting is lacking.

Typical manifestations are haemorrhages into the joints (haemarthrosis) and haemorrhages in the tissues (haematomas).

In their serious form, haemorrhages can involve any part of the body, and may develop following traumatic events but also spontaneously.

Haemarthroses that are not properly treated damage the joints affected, causing permanent disability.

The disease, which is linked to the X chromosome, is transmitted from a healthy carrier mother to her child; it affects almost exclusively males, in the proportion of one in ten thousand.

Up to the 1960s hemophilia was incurable; it is a disorder that still cannot be cured, however thanks to medical progress, in particular since 2000, it can be effectively treated, and with proper treatment patients can lead a perfectly normal life. The most common treatment consists of  intravenously administered concentrates of coagulation factors, either derived from plasma or obtained using genetic engineering techniques.

Considerable progress has also been made thanks to prophylactic treatment, which involves periodical administration of the clotting factor to prevent the development of joint damage or other complications.

It is a rare disease affecting about 4,000 people in Italy – 8,000 if we take related syndromes into account (source: Registro nazionale delle coagulopatie congenite - National registry of Bleeding Disorders).

According to World Federation of Hemophilia estimates, 75% of the world's haemophilic population has inadequate treatment or none at all.



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