Thalassemia Treatment in Delhi, India

Thalassemia is associated with various symptoms depending on the type and severity of the condition. Some of which include:

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

Some signs and symptoms become evident at birth, while others develop within the first two years of life. In addition, some people with only a single affected haemoglobin gene do not present any clinical symptoms of the disease.

Thalassemia results due to mutations in the DNA of cells that make haemoglobin. These mutated genes are inherited from parents to children.

Haemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. For example, in thalassemia, the production of either the alpha or beta chains is reduced. As a result, either alpha-thalassemia or beta-thalassemia develops.

In alpha-thalassemia, the severity of thalassemia depends on how many gene mutations have been inherited from parents. The number of mutated genes indicates the severity of the disease.

In beta-thalassemia, the severity of thalassemia depends on the part of the affected haemoglobin molecule.

Alpha-thalassemia

Alpha haemoglobin chain comprises four genes, two from each parent. Therefore, the symptom expression can be explained based on what is inherited:

• One mutated gene: No symptoms of thalassemia occur. However, the inherited gene is carried and can be passed on to the future generation.
• Two mutated genes: Mild symptoms of thalassemia become evident, and the condition is termed the alpha-thalassemia trait.
• Three mutated genes: The signs and symptoms expressed clinically are moderate to severe. 
• Four mutated genes: This rarely happens. However, when it does, it often results in stillbirth or needs a lifetime therapy of blood transfusion. Rarely such children can be treated with stem cell transplants.

Beta-thalassemia

Two genes, inherited from one parent each, are involved in making the beta-haemoglobin chain. Therefore, the symptom expression can be explained based on what is inherited:

• One mutated gene: Mild symptoms are evident, and the condition is termed thalassemia minor or beta-thalassemia.
• Two mutated genes: Moderate to severe symptoms occur, and the condition is termed thalassemia major or Cooley anaemia. Babies born with two defective beta haemoglobin genes are healthy at birth. However, in the first two years of life, symptoms may be clinically expressed. Thalassemia intermedia, a milder form, may result from the two mutated genes.
  

Diagnosis of thalassemia requires simple blood testing. These tests help evaluate the condition of red blood cells and any associated abnormalities. In addition, they allow doctors to study the morphology of red blood cells. Furthermore, they also help perform DNA analysis to check for mutated genes. 

Prenatal Testing

Prenatal testing is done to determine if babies have thalassemia or not before they are born. In addition, its severity is also assessed. The tests include:

• Chorionic villus sampling: This test is done around the 11th week of pregnancy. A sample of the placenta is extracted for examination.
• Amniocentesis: The 16th week of pregnancy is ideal for performing this test. The fluid surrounding the foetus is extracted for testing.

Mild thalassemia does not need treatment, while the moderate to severe forms require blood transfusion and other treatment modalities for survival. These include:

• Frequent blood transfusions: Severe forms of thalassemia need blood transfusions every few weeks. This enables the body to relieve the symptoms that present due to a lack of enough oxygen. With time, the build-up of iron in the blood damages various organs such as the heart, liver and other organs.
• Chelation therapy: This treatment removes the excess iron build-up in the body due to blood transfusions. 
• To help eliminate excess iron, oral medicines, such as deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox), are prescribed. Deferoxamine (Desferal) is also injected.
• Stem cell transplant: This procedure is synonymously known as bone marrow transplant. In this procedure, the bone marrow of affected individuals is replaced with that of the matched donor. However, this is a high-risk procedure and may cause the individual's death. It is, thus, only recommended for people who show clinical symptoms of the disease. Stem cell transplant is also known to cure the disease. However, clinical trials are still being conducted for confirmation.

Thalassemia, if not addressed, poses certain complications that include:

• Excessive Iron: People with thalassemia who undergo blood transfusion are at risk of storing excessive iron in their bodies. This damages the body's other organs and obstructs its regular functioning—excess iron damages the heart, liver and endocrine system.
• Infection: People with thalassemia carry an increased risk of infection, especially if the spleen is removed. 

Severe thalassemia is associated with the following complications:

• Bone Deformities: Thalassemia can cause the expansion of the bone marrow. As a result, the bone widens. In addition, thalassemia can lead to severe bone deformities affecting the facial and skull bones. It also makes the bones brittle, leading to frequent fractures.
• Enlarged Spleen: The spleen plays a role in eliminating infection and filters unwanted and damaged cells from the body. Thalassemia destroys healthy RBCs leading to an enlarged spleen. This further worsens anaemia and affects the life of the transfused blood cells.
• Effect on Growth Rate: Anaemia slows the growth rate of children and delays puberty.
• Heart Issues: Congestive heart failure and abnormal heart rhythms can be associated with severe thalassemia.

Certain risk factors that contribute to the development of thalassemia are:

• Family History: Thalassemia develops when a mutated gene is inherited from parents.
• Certain Ancestry: Thalassemia is common in African Americans and people of Mediterranean and Southeast Asian descent.

Reviewed by Dr. Rayaz Ahmed,  Director, Cancer Care / Oncology, Bone Marrow Transplant, Hematology Oncology, Medical Oncology, Hematology, Paediatric (Ped)/Medical Oncology on 13-Jan-2023.