Thalassemia Treatment in India

What is Thalassemia?

Thalassemia is an inherited, it means at least one of your parents must be a carrier of the disorder. It’s caused by either a genetic mutation or a deletion of certain key gene fragments. Thalassemia  is a blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.

Symptoms

• Fatigue
• Weakness
• Pale or yellowish skin
• Facial bone deformities
• Slow growth
• Abdominal swelling
• Dark urine

Causes

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Risk Factors

• Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes.
• Certain ancestry. Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.

Complications

• Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system.
• Infection. People with thalassemia have an increased risk of infection.
• Bone deformities. Thalassemia can make your bone marrow expand, which causes your bones to widen. This can result in abnormal bone structure, especially in your face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones.
• Enlarged spleen. The spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells. This causes your spleen to enlarge and work harder than normal.
• Slowed growth rates. Anemia can both slow a child's growth and delay puberty.
• Heart problems. Congestive heart failure and abnormal heart rhythms can be associated with severe thalassemia.

Diagnosis

If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.

Prenatal testing

Tests used to diagnose thalassemia in fetuses include:

• Chorionic villus sampling. Usually done around the 11th week of pregnancy, this test involves removing a tiny piece of the placenta for evaluation.
• Amniocentesis. Usually done around the 16th week of pregnancy, this test involves examining a sample of the fluid that surrounds the fetus.

Treatment

• 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.
• Chelation therapy. This is treatment to remove excess iron from your blood. Iron can build up as a result 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. To help rid your body of the extra iron, you might need to take an oral medication.
• Stem cell transplant. Also known as bone marrow transplant, a stem cell transplant might be an option in some cases. For children with severe thalassemia, 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.

Home remedies

• Avoid excess iron. Don't take vitamins or other supplements that contain iron without doctor consent.
• Eat a healthy diet. Healthy eating can help you feel better and boost your energy. Your doctor might also recommend a folic acid supplement to help your body make new red blood cells.
• Avoid infections. Wash your hands frequently and avoid sick people. You'll also need an annual flu shot, as well as vaccines to prevent meningitis, pneumonia and hepatitis B.

Frequently asked questions

Q.Is thalassemia a serious disease?

When left untreated, this condition can lead to problems in the liver, heart, and spleen. Infections and heart failure are the most common life-threatening complications of thalassemia in children.

Q.How long do thalassemia patients live?

Most thalassaemia patients would live up to the age of 25 to 30 years. Improved facilities will help them live up to the age of 60.

Q.Does thalassemia affect immune system?

People with thalassemia are said to be “immunocompromised,” which means that some of the body's defenses against infection aren't working. When you are immunocompromised, it is easier for you to get infections and you sometimes need extra protection, like flu shots and other vaccines.

Q.What is the main cause of thalassemia?

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Q.Can thalassemia be cured?

Blood transfusions and chelation do not cure beta thalassemia. A stem cell transplant can cure it, but it is a serious procedure with many risks and won't benefit everyone with the condition.