Thalassemia is a disease that is transmitted from the parents to the child. According to the World Health Organization, “Alfa and beta thalassemia are the most commonly inherited single gene disorders in the world.”
According to Harvard University studies, both parents need to have a gene for thalassemia in order for the child to be reliant on a transfusion. Thus, there is a 25% risk that the child will contract a severe anemia called “thalassemia major”. For an illustration of the genetic distribution, see the following diagram:
As already mentioned, thalassemia major is the most severe type and is considered a rare disease as it affects only a very small percentage of the population.
The bone marrow of a child diagnosed with thalassemia major does not produce enough red blood cells, called hemoglobin, that makes it difficult for them to live independently. To be able to live and grow, the affected children are dependent on lifelong transfusions every 2-4 weeks.
Each red blood cell contains one iron molecule. When a person receives chronic blood transfusions, these iron molecules deposit in the body. The only way to remove the iron from the body is through medication. There are several types of medications that allow iron excretion from the body (in tablets or in liquid form).
Medical research has made many achievements in the last 20 years. We are fortunate that we live in a time when pioneering and promising therapies are explored. At present, however, thalassemia is curable only through a bone marrow transplantation of a near-perfect matching sibling donor.
With proper transfusion and chelation compliance, a child with thalassemia can become a fully functional adult. Thanks to today’s advanced medical technology, there are no limits for someone born with thalassemia.