Thalassemia is a genetic blood disorder. It prevents our body to produce the required amount of hemoglobin. Hemoglobin enables red blood cells to carry oxygen. When there isn’t enough hemoglobin, the body’s red blood cells become unable to function properly, and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream, explained Dr. Vikas Dua, Additional Director and Head, Paeds Haematology, Haemato- Oncology and Bone Marrow Transplants, Fortis Memorial Research Institute, Gurugram.
What are Signs and Symptoms of Thalassemia?
According to Dr. Dua, symptoms of Thalassemia can differ from person to person. Some of the most common signs include:
- Pale or yellowish skin
- Bone deformities especially in the face
- Delayed growth
- Abdominal swelling
- Dark urine
- Greater susceptibility to infections
What are the different types of Thalassemia?
There are two main types of Thalassemia:
- Alpha Thalassemia: It occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
- Beta Thalassemia: It occurs when similar gene defects affect production of the beta globin protein.
What are the Diagnosis and Treatment Options for Thalassemia?
Moderate and severe Thalassemias are often diagnosed in childhood because symptoms usually appear during the first 2 years of a child’s life, said Dr. Dua.
Various blood tests are used to diagnose Thalassemias:
According to Dr. Dua, “People with Thalassemias have fewer healthy red blood cells and low hemoglobin; those with Thalassemia trait have slightly lower than normal red blood cells.”
A reticulocyte count (a measure of young red blood cells) may indicate bone marrow is not producing an adequate number of red blood cells.
Studies of iron will indicate whether the cause of the Anemia is iron deficiency or Thalassemia.
Hemoglobin electrophoresis is used to diagnose Beta Thalassemia.
Genetic testing is used to confirm the diagnosis of Thalassemia.
Thalassemia trait doesn’t need any treatment. These patients just have lower than normal hemoglobin and live a normal healthy life.
Patients with Thalassemia major need Frequent blood transfusions, which may be as frequent as every 2-3 weeks. Over time, blood transfusions cause a buildup of iron in our blood, which can damage our heart, liver and other organs.
Chelation therapy is a treatment to remove excess iron from our blood. Iron can build up because of regular transfusions. Some people with Thalassemia who don’t have regular transfusions can also develop excess iron. Removing the excess iron is vital for your health.
In order to reduce extra iron from our body, one might need to take oral medication.
Stem cell transplant
Also called a bone marrow transplant, a stem cell transplant might be an option in some cases. For children with Thalassemia major, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload.
This procedure involves receiving infusions of stem cells from a compatible donor, usually a sibling or in some cases an unrelated donor.