THALASSEMIA

Thalassemia is a disease which was originally common amongst the populations of the Mediterranean basin, South-East Asia and certain countries in Equatorial Africa. Due to massive global migration, thalassemia is today present in almost all regions worldwide.

Thalassemia includes a diverse group of genetic disorders characterized by a decreased and a defective production of hemoglobin, the oxygen-carrying pigment contained in red blood cells.
Parents who are both carriers - i.e. one of the two genes in the genome of both parents fails in the expression of hemoglobin - have a 25% probability of giving birth to a child affected by Thalassemia Major, the most severe of these genetic disorders, also known as Beta Thalassemia or Cooley's Anemia.
It is estimated that in Italy the number of individuals with Thalassemia Major is between 5,000 and 8,000, while in Egypt 35,000 children are born with thalassemia every year.

The genetic defect characterizing Thalassemia Major is intrinsic to hematopoietic cells, the progenitor cells of blood cells (red blood cells, white blood cells, platelets) which are present in the bone marrow.
If until recently, the only viable treatment for patients with Thalassemia Major had been an appropriate transfusion therapy, now it is possible to cure thalassemia by transplanting the bone marrow from a compatible donor to replace ill with healthy cells.