1. What is thalassemia?

Thalassemia is a group of genetic blood disorders that affect the production of hemoglobin, the oxygen-carrying protein in red blood cells. In thalassemia, the body does not produce enough of either the alpha or beta globin proteins, leading to abnormal red blood cells and anemia, which begins in early childhood and persists throughout life.

2. What is the difference between alpha and beta thalassemia?

  • Alpha thalassemia occurs when the body produces insufficient alpha-globin chains. This affects the overall structure of hemoglobin.

  • Beta thalassemia involves insufficient beta-globin chain production, which similarly disrupts normal hemoglobin formation.

Both types result in anemia, but beta thalassemia is generally more severe and often requires blood transfusions. Alpha thalassemia may present with less severe symptoms but can also cause significant health issues depending on the number of alpha genes affected.

3. What are the symptoms of thalassemia?

Symptoms may vary based on the type and severity of thalassemia. Common signs include:

  • Fatigue or weakness

  • Pale or yellowish skin (jaundice)

  • Slow growth in children

  • Bone deformities, especially in the face

  • Enlarged spleen and liver

  • Iron overload due to frequent blood transfusions

Severe cases, particularly thalassemia major, often require regular blood transfusions.

4. How is thalassemia inherited?

Thalassemia is inherited in an autosomal recessive manner. This means a person needs to inherit two mutated genes—one from each parent—to develop thalassemia. Those with only one mutated gene are carriers (thalassemia trait) and typically do not exhibit symptoms but can pass the gene to their children.

5. What is thalassemia major, and how does it differ from thalassemia minor?

  • Thalassemia Major is the severe form of thalassemia, where both beta or alpha genes are significantly affected, leading to very low or absent production of normal hemoglobin. This typically requires lifelong blood transfusions and ongoing medical care.

  • Thalassemia Minor is a milder form where one gene is affected. People with thalassemia minor generally have mild anemia or no symptoms at all.

6. Can thalassemia be cured?

While there is no cure for thalassemia in all cases, bone marrow or stem cell transplants can offer a potential cure, especially for children with severe forms. However, this treatment carries risks and is not suitable for all patients. Regular blood transfusions and iron chelation therapy help manage symptoms and prevent complications like iron overload.

7. How is thalassemia diagnosed?

Thalassemia is diagnosed through blood tests, such as a complete blood count (CBC) and hemoglobin electrophoresis, which can identify abnormal hemoglobin. Genetic testing may also be performed to confirm mutations in the hemoglobin genes. Prenatal testing is available for families at risk.

8. What is the treatment for thalassemia?

Treatment typically involves:

  • Blood transfusions to maintain hemoglobin levels.

  • Iron chelation therapy to reduce iron buildup from frequent transfusions.

  • Folic acid supplements to aid in red blood cell production.

  • Bone marrow transplants for eligible patients, particularly younger individuals. Newer therapies, such as gene therapy, are emerging but are not widely available yet in India.

9. How can thalassemia be prevented?

Thalassemia can be prevented through genetic counseling and carrier screening, especially before marriage or pregnancy. If both parents are carriers of thalassemia traits, they can undergo prenatal testing to assess the risk of having a child with thalassemia.

10. Is it safe for a person with thalassemia to have children?

Yes, but it’s important for people with thalassemia or those with a family history to seek genetic counseling before having children. If both parents are carriers of thalassemia, there is a 25% chance of having a child with a severe form of the disorder. Genetic screening and counseling can help inform reproductive choices.