Red cells make up about 45% of the total volume of blood. Their main constituent is the protein “haemoglobin”. Their main role is to carry oxygen from the lungs to tissues and cells around the body, through the oxygen-carrying “haemoglobin”.
Thalassaemia major is a disorder of the blood. More specifically, a disorder of the haemoglobinmolecule inside the red blood cells.
Thalassaemia is an inherited genetic disease, passed on from parents to children through the genes. It is not an infectious disease.
Carriers of thalassaemia are perfectly healthy individuals. The risk of giving birth to a child affected with thalassaemia is 25% when both parents are carriers and 0% when only one parent is a carrier.
β-thalassaemia major is today preventable and treatable. It is treated with regular blood transfusions and iron chelation and total cure is on the near horizon.
Today there is ample scientific evidence for appropriate diagnosis, monitoring and treatment of other, previously defined as ‘milder’ clinical thalassaemia syndromes, collectively given now the name “Non Transfusion-Dependent Thalassaemias”. These include β-thalassaemia intermedia, HbE/β-thalassaemia and HbH (α-thalassaemia).