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World Thalassemia Day – Types, Symptoms, Treatment options and Preventive Tips

  • May 08, 2023
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World Thalassemia Day – Types, Symptoms, Treatment options and Preventive Tips

Thalassemia is a significant public health concern in India, with an estimated 40 million carriers of the thalassemia trait in the country. The prevalence of thalassemia varies across different regions of the country, with a higher prevalence in certain states such as Punjab, Haryana, and Gujarat. It is estimated that around 10,000 children are born with thalassemia every year in India.

What is Thalassemia?

Thalassemia is a genetic disorder caused by mutations in the genes responsible for the production of hemoglobin, which is an essential protein in red blood cells. Hemoglobin is made up of four protein molecules: two alpha globin chains and two beta globin chains. Thalassemia occurs when there is a mutation in one or more of these genes, which affects the production of either the alpha or beta globin chains. This results in a reduced production of hemoglobin and a decreased ability of the red blood cells to carry oxygen.

Types of Thalassemia

There are two main types of thalassemia: alpha and beta thalassemia. Alpha thalassemia occurs when there are defects or mutations in the genes that code for alpha globin chains. Beta thalassemia occurs when there are defects or mutations in the genes that code for beta globin chains.

There are several subtypes of alpha and beta thalassemia, which can affect the severity of the disorder. For example, alpha thalassemia minor is a milder form of the disorder that typically does not cause significant symptoms, while alpha thalassemia major is a more severe form that can cause significant anemia and other complications. Similarly, beta thalassemia minor is a milder form that may not cause significant symptoms, while beta thalassemia major is a more severe form that requires lifelong management with blood transfusions and other treatments.

Thalassemia is an inherited disorder, which means that it is passed down from parents to their children. If both parents carry a mutation in the same gene responsible for thalassemia, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and develop thalassemia.

Symptoms of Thalassemia

The symptoms of thalassemia can vary widely depending on the type and severity of the disorder.

In general, people with thalassemia may experience symptoms related to anemia, or a low red blood cell count. These may include fatigue, weakness, pale skin, and shortness of breath, especially during physical activity.

Other common symptoms of thalassemia may include:

  • Jaundice: a yellowing of the skin and eyes caused by a build-up of bilirubin, a waste product of red blood cell breakdown
  • Enlarged spleen: the spleen may become enlarged due to increased red blood cell breakdown and removal
  • Delayed growth and development: children with severe thalassemia may experience delays in growth and development due to the increased energy demands of their bodies
  • Bone deformities: people with severe thalassemia may experience bone deformities, such as an enlarged forehead, prominent cheekbones, or a prominent jaw, due to the increased activity of bone marrow in an attempt to produce more red blood cells
  • Heart problems: people with thalassemia may be at increased risk for heart problems, such as heart failure or arrhythmias, due to the increased workload on the heart from a low red blood cell count

Treatment Options for Thalassemia

Even mild forms of thalassemia can still cause complications and may require management and treatment.

Treatment for thalassemia can vary depending on the type and severity of the disorder. Here are some common treatment options for thalassemia:

  1. Blood transfusions: One of the main treatments for thalassemia is regular blood transfusions, which involve receiving healthy red blood cells from a donor. This can help to alleviate symptoms of anemia and improve overall health. However, frequent blood transfusions can lead to an accumulation of iron in the body, which can cause further complications.
  2. Iron chelation therapy: To prevent the build-up of iron in the body from frequent blood transfusions, iron chelation therapy may be used. This involves taking medication that binds to excess iron in the body, allowing it to be excreted in the urine. Common iron chelation medications include deferoxamine, deferasirox, and deferiprone.
  3. Stem cell transplant: In severe cases of thalassemia, a stem cell transplant may be recommended. This involves replacing the patient's faulty bone marrow with healthy bone marrow from a donor. This procedure can be curative, but it carries significant risks and is not always an option for all patients.
  4. Folic acid supplements: Folic acid is a B vitamin that is essential for the production of red blood cells. Taking folic acid supplements can help to support red blood cell production and alleviate symptoms of anemia.
  5. Bone marrow stimulation: For some types of thalassemia, medications such as erythropoietin (EPO) or androgens may be used to stimulate the bone marrow to produce more red blood cells. This can help to reduce the need for blood transfusions.
  6. Gene therapy: Gene therapy is an experimental treatment that involves modifying the patient's own cells to produce healthy hemoglobin. This is a promising area of research, but it is not yet widely available.

There are some steps that people can take to reduce their risk of having a child with thalassemia or to manage the symptoms of the disorder. Here are some tips:

  • Genetic counseling: If you have a family history of thalassemia or are at risk of carrying the gene mutations that cause thalassemia, genetic counseling can be a valuable resource. Genetic counselors can help you understand your risk of passing on the disorder to your children and discuss options for prenatal testing and treatment.
  • Prenatal testing: If you are at risk of carrying the gene mutations that cause thalassemia, prenatal testing can be done during pregnancy to determine whether your child has the disorder. This can allow you to prepare for the child's care and treatment needs.
  • Donor sperm or eggs: For couples with a high risk of passing on thalassemia to their children, donor sperm or eggs may be an option. This can help to ensure that the child does not inherit the gene mutations that cause thalassemia.
  • Regular medical care: If you have thalassemia, it's important to receive regular medical care to manage the symptoms of the disorder and prevent complications. This may include regular blood transfusions, iron chelation therapy, and other treatments as needed.
  • Healthy lifestyle: People with thalassemia may be at increased risk of certain health problems, such as heart disease, so it's important to maintain a healthy lifestyle. This may include regular exercise, a balanced diet, avoiding smoking and excessive alcohol consumption, and getting regular medical check-ups.

Medical Disclaimer

Any medical information referred to in or through our blog is provided as information only and is not intended:

· as medical diagnosis or treatment

·  to replace consultation with a qualified medical practitioner

It's important to note that treatment for thalassemia is ongoing and may require regular monitoring and adjustments. Patients with thalassemia should work closely with their healthcare providers to develop a comprehensive treatment plan that meets their individual needs. On this World Thalassemia Day, let’s raise awareness about thalassemia and support those affected by this condition.