Thalassemia is a medical illness that is passed down from parent to child. According to the World Health Organization, „the alpha and beta thalassaemias are the most common inherited single-gene disorders in the world.“
Harvard University explains that in order for a child to become transfusion dependent, each parent must carry a gene for thalassemia. After which, there is only a 25% chance that the child will be at risk for living with severe anemia, known as „thalassemia major.“ You can gain greater clarity of how that genetic distribution works by looking at the image below.
As you can see, a child with thalassemia can suffer from different variations or levels of severity of the illness. As described before, Thalassemia major is the most severe type and is considered an orphan or rare disease, because it affects a very small percentage of the population.
Every child who is diagnosed with thalassemia major has bone marrow that does not produce properly formed red blood cells, called hemoglobin, and therefore cannot sustain life on their own. In order to live and thrive, these children require transfusions of donated red blood cells every 2-4 weeks for the entire duration of their life.
Each red blood cell contains one molecule of iron. When a person receives chronic blood transfusions, those iron molecules build up in the body. The only way to remove iron from one’s body is through medication.
There are several types of medication that allow iron to be excreted from the body. They include: Exjade (a once-a-day tablet that is dissolved in liquid and consumed); Jadnu (a once-a-day pill); Ferriprox (a several-times-a-day pill that is consumed); and Desferal (a solution that is injected by subcutaneous needle over an extended period of time).
Medical advances have come a long way over the past 20 years. We are fortunate to be living in a time when many breakthrough therapies are being researched and show great promise. At the present, however, thalassemia is only curable through bone marrow transplant from a near-perfect match sibling donor.
With proper transfusion and chelation adherence, a child with thalassemia can grow into a fully functional adult. There are no limits for anyone born with thalassemia, thanks to today’s advanced medical technology.