What is thalassemia?

Thalassemia is a congenital genetic abnormality that is characterized by abnormal hemoglobin and reduced red blood cell counts. Thalassemia is a chronic disease which needs lifelong monitoring and treatment.

Bone marrow refers to the bone tissues which produce the blood cells: red blood cells (RBCs), white blood cells (WBCs) and the platelets. In thalassemia, the bone marrow produces inadequate RBCs, resulting in anemia.

What are the causes of thalassemia?

When a baby inherits a defective hemoglobin gene from either or both parent, the body forms defective hemoglobin. Hemoglobin is an iron-binding protein which is composed of alpha and beta chains. This protein structure plays an important role in binding and carrying oxygen.

Depending on the type of gene affected, the amount of abnormal hemoglobin varies. Greater the amount of abnormal hemoglobin, greater is the severity of thalassemia.

Abnormal hemoglobin fails to carry oxygen in the blood and results in anemia and its related symptoms. The body responds to this change with an increased formation of hemoglobin and red blood cells. This overproduction-drive results in more symptoms and complications.

What are the different types of thalassemia?

Depending on the type of hemoglobin gene involved, thalassemia is classified as alpha-thalassemia and beta-thalassemia. Beta-thalassemia major is most serious and usually detected when a child is very young.

Based on the severity of disease, it is classified into –

1. Thalassemia minor (trait)
2. Thalassemia intermediate
3. Thalassemia major

Beta-thalassemia major is the most severe type. It is a condition wherein two beta-thalassemia genes are defective. This results in severe anemia that begins at the age of 4 – 6 months.

What are the symptoms of thalassemia?

Beta-thalassemia major results in thalassemia anemia and bone abnormalities. Some of the symptoms that can be usually observed when the baby is a few months old include:

• Pale skin
• Unusual crankiness
• Inadequate/slow growth
• Swollen belly
• Prone to infections
• Yellowness of the ‘whites’ of the eye
• Abnormally wide bones of head and face, this occurs due to over expansion of bone marrow.

What are the complications of thalassemia?

Complications of thalassemia include:

• Iron overload: Patients with thalassemia undergo regular blood transfusions, as a result they may experience symptoms related to excess iron in the body. Too much iron results in damage to the heart, kidneys, liver and endocrine system.

• Infection: Patients with thalassemia are more prone to infections, especially when their spleen is removed.

• Bone deformities: The expansion of bone marrow results in an abnormal bone structure, causing the bone to be thin, brittle and break, especially in the face and skull.

• Enlarged spleen: Reduced or abnormal red blood cells make the spleen to work harder than normal, causing it to enlarge. Splenomegaly (expansion of spleen) worsens anemia and life of transfused red blood cells. Therefore, the doctor may suggest removing the spleen (splenectomy).
• Slowed child growth: Anemia can result in poor child growth and development.
• Heart diseases: Heart problems such as arrhythmias, congestive heart failure may result in severe cases of thalassemia.

How is thalassemia diagnosed?

Thalassemia can be diagnosed by the pediatrician/physician by:

• Thorough medical history
• Blood tests to diagnose the type of thalassemia. The red blood cells are smaller and paler than usual.
• Genetic tests to diagnose the exact type of gene affected. It may help to test other family members where possible.

What is the treatment for thalassemia?

The main treatment options for thalassemia are:

• Regular blood transfusions along with iron chelation therapy
  • Iron chelation therapy helps to remove excess iron that gets built up with repeated blood transfusions.
• Bone marrow transplant or stem cell transplant
  • The procedure is suggested in some suitable cases with thalassemia major.
• Surgical removal of the spleen (an organ that destroys RBCs)
  • This can be considered in some people with beta-thalassemia major.

How to take care of people with thalassemia?

Below are some pointers that can help people with thalassemia:

• Never skip regular follow-ups with the doctor. Do follow all the instructions.
• Avoid taking supplements with iron or other medications without consulting the treating doctor.
• If you or your child has been diagnosed with thalassemia, discuss with your doctor about the likelihood of your future children to have the disease.

To know more about thalassemia and its treatment, you can request a callback and our thalassemia specialist will call you and answer all your queries.

References

• U.S. National Library of Medicine. Thalassemia. Available at: https://medlineplus.gov/thalassemia.html. Accessed on 3rd January 2018.
• Centers for Disease Control and Prevention. Thalassemia. Available at: https://www.cdc.gov/ncbddd/thalassemia/index.html. Accessed on 3rd January 2018.
• thalassemia. Available at: https://www.nhs.uk/conditions/thalassemia/. Accessed on 1st May 2018.

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