talassemia-ereditaria-rterapiaThalassemia (from Greek “lack of blood”, found mainly along coastal areas), is a hereditary disease which consists of a genetic fault in haemoglobin production, whose role is to transport oxygen in the body through iron. There are several kinds of anaemia, especially found in Mediterranean countries, in the centre of Africa and in southeast Asia. Nowadays, the pathology is spread almost everywhere in the world, due to migration of people affected by this disease.

Beta-thalassemia major or Cooley disease is the most severe form of the Mediterranean anaemia transmitted when both parents are carries of a faulty gene, which occurs in the synthesis of the beta haemoglobin chain. The thalassemic patient has the bone marrow that does not produce the right quantity of haemoglobin. To survive, the patient constantly needs blood transfusions, which cause an excessive amount of iron in the tissues. This over accumulation can cause serious damage to the organism (heart failure, diabetes, cirrhosis of the liver etc.).

The principal therapy in the treatment of this disease is based on iron chelation drugs, which allow the iron to be eliminated. The aim is to keep the amount of iron in the organism below the toxicity levels, improving the quality and life expectancy of patients.