What is Thalassemia Major?


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The severe form of Thalassemia, Thalassemia major, occurs when a child inherits two mutated genes, one from each parent. Children born with Thalassemia major usually develop the symptoms of severe anemia within the first year of life. They lack the ability to produce normal adult hemoglobin (red blood cells). Children with Thalassemia major are so chronically fatigued they fail to thrive and do not grow normally. Left untreated, this disorder will cause bone deformities and eventually will lead to death within the first decade of the child’s life.

The only treatments that are provided to patients are regular transfusions of red blood cells. Thalassemia major patients require transfusions of red blood cells, every 2 to 3 weeks depending on the individual’s consumption of the infused cells. The complication that results from constant blood transfusions is iron overload, also known as secondary hemochromatosis. Once iron is stored in the organs, it will eventually lead to organ failure and will lead to death.

Iron is a component of hemoglobin, essential to the body, but once red blood cells break down the excess iron cannot be removed, resulting in the absorption of too much iron in the body. It is necessary that this excess iron be removed because it stores in the vital organs of the body, such as the heart and liver. Fortunately, a drug called Desferrioxamine (Desferal) is designed to remove the excess iron from the thalassemic patient.

Although, Desferal has significantly changed the prognosis of patients with Thalassemia major, many of the patients find the nightly 10-12 hour infusions of Desferal tedious, have difficulty with compliance, and find the pump-injected medication painful. Currently, this is the only treatment available to Thalassemia patients.

Bone Marrow Transplant is a way out of getting rid from Thalassemia, but the treatment itself costs 10-12 lacs of Rupees. And there isn't any surety that the Thalassemic child will be cured even if the transplant is successful. If the transplant is unsuccessful, the patient may die or become a Thalassemic Major again, and will continue getting Blood Transfusions for rest of his life.

So people lets come together, lets join hands and eliminate Thalassemia from our Country, our World. Because for Thalassemia, Knowledge is the only Cure. To make yourself and your family safe from Thalassemia, you just have to run one test, which is called 'Electrophoresis Test'. This test will let you know if you are carrying the Thalassemic Carrier Gene or not. By chance you are a Thalassemic Carrier, it is very important for you to check the Thalassemic status of your life partner to prevent the birth of a Thalassemic Major child. Even if two Thalassemic Carriers want to have a child, the possibilities of it turning out to be a Thalassemic Major is only 25%. There are 'Pre-Natal' Tests to check whether the child is a Thalassemic Major before it is born.