Thalassemia

What is Thalassemia?

Thalassaemia, also known as “Cooley’s anaemia” is an inherited (genetic) disease of the red blood cells, classified as a hemoglobinopathy. A hemoglobinopathy results in the abnormal formation of one of the globin chains of the haemoglobin molecule, the oxygen carrying molecule of our blood. The abnormal haemoglobin molecules are vulnerable to mechanical injury and die easily, thus resulting in a reduced number of red blood cells in the bloodstream. The presence of abnormal or reduced haemoglobin molecules within our bloodstream can in turn; result in a condition known as anaemia, whereby there is a significant reduction in the amount of oxygen carried to the body tissues that need it.

Thalassaemia can be classified into two types, Alpha Thalassaemia and Beta Thalassaemia according to which chain of the haemoglobin molecule is affected, the alpha chain, or the beta chain.

What are the current treatments?

Currently the most common treatment of Thalassaemia is frequent blood transfusions, which lead to iron overload within the patients’ body. If the iron overload goes unchecked, the build-up becomes toxic to tissues and organs, particularly the heart and liver. Patients therefore have to undergo painful and inconvenient chelation therapy which serves to reduce the amount of accumulated iron within the bloodstream.

How can stem cells help Thalassemia patient?

Bone marrow transplant has been the latest form of treatment for Thalassaemia and results have been very encouraging, with successful transplants eliminating the patients’ dependencies in transfusions. Cord blood stem cells have now been touted as the latest and probably the best source of stem cells for carrying out transplants due to easy attainability and low risk of GvHD. A 2004 publication in Haematologica even stated that “..it should be pointed out that the only treatment that may lead to a definitive cure in Thalassaemia major is stem cell transplantation…”.