The term rare applies to those diseases affecting a limited number of people with a prevalence below a given cut-off point, which is codified by the legislation of each individual country. The EU sets this threshold at 0.05% of the population, i.e. one case for every 2,000 inhabitants (in the US a disease is considered rare when it has been diagnosed in fewer than 200,000 sufferers in the population, i.e. about 0.08%).
Rare diseases create specific problems relating to their rarity, are serious, often chronic and at times progressive, and may appear at birth or during childhood.
All those affected by rare diseases find it hard to reach a diagnosis, obtain information or receive a referral to consult competent specialists. It is equally difficult for them to access effective treatment, receive social and medical care for the disease, coordinate basic treatment with that provided by hospitals, and maintain their autonomy and social, professional and civic inclusion.
From rare diseases we have a strong focus in sphere of Hematology in treatment of patients affected by Thalassemia Major- genetic disease that affects the body's ability to make red blood cells. We are providing the first oral iron chelator which prevents iron-induced heart disease and significantly reduces the risk of early cardiac death in Thalassemia Major patients who undergo regular blood transfusions.