Thalassemia: Symptoms and Care | SPARSH Hospital

Published in : Haematology | January 24, 2025 |

Thalassemia: Symptoms and Care

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Thalassemia is a genetic blood disorder that affects the body’s ability to produce haemoglobin, a protein crucial for carrying oxygen in red blood cells. This condition results in varying degrees of anaemia, depending on the type and severity. While thalassemia can be managed effectively with proper care, early diagnosis and treatment play a pivotal role in improving the quality of life for those affected.

What is Thalassemia Disease?

Thalassemia is classified as a blood disorder caused by genetic mutations that disrupt normal haemoglobin production. Haemoglobin is responsible for transporting oxygen from the lungs to the rest of the body. A deficiency in haemoglobin leads to anaemia, which can manifest in mild or severe forms.

There are two primary types of thalassemia, based on which haemoglobin chain is affected:

  1. Alpha Thalassemia: Caused by mutations in the alpha-globin gene.
  2. Beta Thalassemia: Caused by mutations in the beta-globin gene.

These types are further divided into subtypes like thalassemia minor, thalassemia intermedia, and thalassemia major, each varying in severity.

Symptoms of Thalassemia

The symptoms of thalassemia vary based on its type and severity. Understanding these symptoms can help in early detection and management:

  • Fatigue and Weakness: Caused by reduced oxygen levels in the blood, leading to constant tiredness.
  • Pale Skin and Jaundice: Low haemoglobin levels and rapid red blood cell breakdown cause pallor and yellowing of the skin.
  • Bone Deformities: Especially in the skull and face due to bone marrow expansion.
  • Slow Growth and Development: Children with severe thalassemia often experience delayed growth.
  • Enlarged Spleen and Liver: The overwork of these organs in filtering abnormal blood cells leads to enlargement.
  • Shortness of Breath: A result of reduced oxygen levels in the body.

Early recognition of these thalassemia symptoms is crucial for timely diagnosis and intervention.

What Causes Thalassemia?

Thalassemia is a hereditary condition passed from parents to children. The thalassemia causes include:

  • Genetic Mutations: Changes in the genes responsible for producing haemoglobin.
  • Family History: Having a parent or sibling with thalassemia increases the likelihood of inheriting the disorder.

For someone to have thalassemia major, both parents must pass on the defective gene, while inheriting one gene results in a milder form, thalassemia minor.

Diagnosis of Thalassemia

Accurate and early thalassemia diagnosis is essential for effective management. Diagnostic methods include:

  1. Thalassemia Test: A complete blood count (CBC) can reveal anaemia and abnormalities in red blood cells.
  2. Haemoglobin Electrophoresis: Identifies the types of haemoglobin present in the blood, pinpointing abnormal forms.
  3. Genetic Testing: Confirms the presence of genetic mutations responsible for thalassemia.

Prenatal testing is also available to detect the disorder in unborn children, allowing families to prepare for future care.

Treatment for Thalassemia

Thalassemia treatment focuses on managing symptoms, preventing complications, and improving the patient’s quality of life. Treatment options include:

1. Blood Transfusions

Regular blood transfusions play a vital role in managing severe forms of thalassemia, such as thalassemia major. These transfusions help maintain normal haemoglobin levels, alleviating symptoms like fatigue and supporting healthy growth and development. By preventing complications such as severe anaemia and organ damage, transfusions significantly improve quality of life and overall well-being for those affected.

2. Iron Chelation Therapy

Frequent transfusions can lead to iron overload in the body. Chelation therapy involves medications like deferasirox to remove excess iron and prevent organ damage.

3. Bone Marrow Transplant

A potential cure for severe cases, especially in younger patients. Healthy donor marrow replaces the faulty bone marrow, allowing normal blood production.

4. Medications

Medications like luspatercept are designed to stimulate red blood cell production, helping reduce the need for frequent transfusions in individuals with severe thalassemia. Additionally, folate supplements play a crucial role in supporting the growth and maintenance of healthy blood cells, aiding overall blood health and complementing other treatment strategies.

5. Lifestyle Modifications

A diet abundant in calcium and vitamin D is vital for supporting bone strength, which is often affected in individuals with thalassemia. Incorporating foods like dairy products, leafy greens, and fortified cereals can make a significant difference. Regular, moderate exercise, such as walking or yoga, not only boosts overall fitness but also promotes better circulation and muscle health without placing undue strain on the body.

When to See a Doctor?

If you or your child experience ongoing fatigue, unusually pale skin, or delayed growth milestones, it’s crucial to consult a haematologist for a thorough evaluation. These symptoms may indicate an underlying condition like thalassemia, which requires timely diagnosis and appropriate care. Early intervention through specialised tests, such as a thalassemia test, can help determine the type and severity of the condition. You can visit a haematologist in Bangalore at your nearest SPARSH Hospital.

Caring for Thalassemia Patients

Caring for someone with thalassemia involves a holistic approach:

  • Regular Check-ups: Ongoing medical supervision helps monitor haemoglobin levels and organ health.
  • Emotional Support: Thalassemia can be challenging for patients and families. Counselling and support groups can make a significant difference.

Education: Understanding the condition empowers patients and caregivers to make informed decisions about treatment and lifestyle changes.

Conclusion

Thalassemia is a lifelong condition, but with early diagnosis and appropriate care, individuals can lead fulfilling lives. Advances in treatment, such as bone marrow transplants and iron chelation therapy, have significantly improved outcomes. Remember, a proactive approach to managing symptoms and regular consultations with a haematologist can help mitigate complications and enhance the quality of life.

Frequently Asked Questions

What is the main cause of thalassemia?

Thalassemia stems from inherited genetic mutations that disrupt normal haemoglobin production. If one or both parents carry the faulty gene, there’s a likelihood of passing it on to their children.

Can thalassemia patients live a normal life?

Absolutely. With consistent treatment like scheduled blood transfusions, iron chelation therapy, and a balanced lifestyle, many individuals manage to lead healthy and active lives despite the condition.

Is there any cure for thalassemia?

Bone marrow transplants present a potential cure, especially in younger patients, but they’re not universally applicable. For most, symptom management and regular monitoring remain the cornerstones of care.

What are the effects of thalassemia?

Thalassemia impacts the body in various ways, including persistent anaemia, chronic fatigue, bone deformities (especially in severe cases), and enlargement of organs like the spleen or liver, depending on its severity.


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