Berloni Foundation
against thalassemia
The term "Thalassemia" implies a genetic disorder of an extremely heterogenous group which is characterised by a reduced or erroneous production of haemoglobin, the respiratory pigment contained in the red cells. The probability of a child being born affected by Thalassemia Major - the most serious form of this genetic disorder also known as "ß-Thalassemia or Cooleys Disease" - is a 25% chance if the parents are carriers, that is to say if both possess one of the two genes for erroneously coded haemoglobin in their cromosomic make-up. It is estimed that in Italy only, the number of patients affected by Thalassemia Major flucuates between 5,000 and 8,000 individuals.
The genetic defect which characterises Thalassemia Major is intrinsic to the
haemopoietics cells, the progenitor cells of the elements which appear in the blood (red
and white cells, blood plates) which are present in bone marrow. If up until now correct
transfusion therapy has been the only available treatment for patients affected by
Thalassemia Major, it is today possible to cure the disease by way of performing bone
marrow transplant using a compatible donor and in this way replacing diseased cells whit
healty ones.
