The average prevalence of β thalassemia carriers is 3–4%. Estimates indicate that there are around 100,000 patients with a β thalassemia syndrome in India. However, in the absence of National Registries of patients, the exact numbers are not known. Approximately 10,000-12,000 thalassemic children are born annually in India.
Definition
The Rights of Persons with Disabilities Act, 2016 defines Thalassemia as a group of inherited disorders characterised by reduced or absent amounts of haemoglobin. Haemoglobin is the substance in red blood cells that carries oxygen. The low hemoglobin and fewer red blood cells of thalassemia may cause anemia.
Possible complications of thalassemia include iron overload (can result in damage to heart, liver and endocrine system), increased risk of infection, bone deformities, enlarged spleen, slowed growth rates among children and heart problems.
Causes
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin. The mutations associated with thalassemia are passed from parents to children.
Treatments
Treatment for thalassemia depends on the severity:
Treatments for mild thalassemia
Signs and symptoms are usually mild with thalassemia minor and little, if any, treatment is needed. Occasionally, one may need a blood transfusion, particularly after surgery, after having a baby or to help manage thalassemia complications.
People with severe beta-thalassemia will need blood transfusions. And because this
treatment can cause iron overload, they will also need treatment to remove excess iron.
An oral medication called deferasirox (Exjade, Jadenu) can help remove the excess iron.
Treatments for moderate to severe thalassemia may include:
- Frequent blood transfusions: More-severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs. To help your body get rid of the extra iron, you may need to take medications that rid your body of extra iron.
- Stem cell transplant: Also called a bone marrow transplant, a stem cell transplant may be an option in select cases, including children born with severe thalassemia. It can eliminate the need for lifelong blood transfusions and drugs to control iron overload. During this procedure, you receive infusions of stem cells from a compatible donor, usually a sibling.
Statistics in India
The average prevalence of β thalassemia carriers is 3–4% which translates to 35 to 45 million carriers. Estimates indicate that there would be around 100,000 patients with a β thalassemia syndrome in India. However, in the absence of National Registries of patients, the exact numbers are not known. Approximately 10,000-12,000 thalassemic children are born annually in India.