Treatment options for thalassemia

By Dr. Girish V Badarkhe

It is important to raise awareness about thalassemia and its global impact, as well as share vital information and knowledge to help patients with this disease receive appropriate medical attention, social support and any other care possible.

Within the first two years of life, the majority of children with thalassemia-major show signs and symptoms. If your doctor suspects that the child has thalassemia, simple blood tests like CBC and Hb-electrophoresis can be used to confirm the diagnosis. Blood tests can identify the number of red blood cells as well as size, shape, and colour abnormalities as well as look for altered genes using DNA analysis.

Treatment options for thalassemia vary depending on the kind and severity of the condition. People with the alpha or beta thalassemia trait show little to no symptoms and might only require occasional treatment.

For moderate and severe cases of thalassemia, doctors use three common therapies namely blood transfusions, iron chelation (keLAY-shun) therapy, and folic acid supplements.

Treatments for moderate to severe thalassemia

Regular blood transfusions
Blood transfusions are often required for more severe cases of thalassemia, possibly every few weeks. Blood transfusions result in accumulation of iron in blood, which can get accumulated in vital organs like heart, liver, pituitary gland (gland controlling various hormones) and other organs over time. But still the main treatment for those with moderate or severe thalassemia is red blood cell transfusions to ensure healthy red blood cells and normal haemoglobin levels. Blood is administered through intravaneous. cannula and generally takes 4-5 hours to complete the transfusion process. Multiple transfusions might be required to maintain a sufficient supply of red blood cells.

Iron chelation therapy
Chelation treatment involves the use of different drugs both oral and subcutaneous. Since haemoglobin is an iron-rich protein found in red blood cells, regular blood transfusions might cause an iron accumulation in the blood. The condition referred to as iron overload harms the liver, heart, and other body organs. Doctors utilise iron chelation therapy to eliminate extra iron from the body to prevent this damage. For iron chelation therapy, three medications are employed:

• Desferrioxamine is a drug that is injected slowly into the skin, generally overnight with a small portable pump. This treatment takes time and might be uncomfortable. Vision and hearing impairments are among the side effects.
• Deferipone is a tablet which can be given twice daily and can cause joint pains and low blood counts.
• Folic acid supplements contain folic acid, a vitamin that contributes to the formation of healthy red blood cells. In addition to blood transfusions and/or iron chelation therapy, folic acid supplements may be recommended by the doctor.

Haematopoietic Stem Cell Transplant (HSCT)
A stem cell transplant, also known as a bone marrow transplant, may be an option in thalassemia major patients. It helps eliminate the requirement for lifelong blood transfusions and iron overload medicines in children with severe thalassemia, this treatment entails receiving stem cell infusions from a suitable donor, typically a sibling.