Thalassemia
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Frequently Asked Questions (FAQ) :
A: With proper treatment, individuals with thalassemia can live into their 50s or 60s. The life expectancy largely depends on the type and severity of thalassemia and how well the disease is managed.
A: The only potential cure for thalassemia is a bone marrow or stem cell transplant. However, treatment can manage symptoms and improve quality of life.
A: Genetic counseling can help parents understand the risk of passing thalassemia to their children. Prenatal testing is also available to detect thalassemia in the fetus.
A: Frequent blood transfusions can lead to iron overload, which can damage the heart, liver, and other organs. Iron chelation therapy is used to manage this risk.
What is Thalassemia?
Thalassemia is a genetic blood disorder characterized by the body’s inability to produce adequate hemoglobin, leading to severe anemia. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Individuals with thalassemia have less hemoglobin and fewer red blood cells than normal, resulting in anemia that can cause fatigue, weakness, and other complications.
Causes of Thalassemia
Thalassemia is caused by mutations in the DNA of cells that produce hemoglobin. These mutations are passed from parents to children. Depending on the specific genes involved and the nature of the mutation, thalassemia can manifest in different forms:
- Alpha Thalassemia: Caused by mutations in the alpha-globin gene.
- Beta Thalassemia: Caused by mutations in the beta-globin gene.
If both parents carry the thalassemia gene, there is a higher chance that their child will inherit a severe form of the disease.
Types of Thalassemia
Thalassemia can be categorized into several types based on the affected hemoglobin chain:
- Alpha Thalassemia:
- Silent Carrier State: Usually no symptoms.
- Hemoglobin H Disease: Mild to moderate anemia, spleen enlargement.
- Alpha Thalassemia Major: Severe anemia, requires regular blood transfusions.
- Beta Thalassemia:
- Thalassemia Minor (Trait): Mild anemia, often asymptomatic.
- Thalassemia Intermedia: Moderate anemia, may require occasional transfusions.
- Thalassemia Major (Cooley’s Anemia): Severe anemia, requires regular blood transfusions and other treatments.
Symptoms of Thalassemia
The symptoms of thalassemia vary depending on the type and severity of the disease. Common symptoms include:
- Fatigue and weakness
- Pale or yellowish skin (jaundice)
- Slow growth and delayed puberty in children
- Enlarged spleen and liver
- Bone deformities, particularly in the face
- Dark urine
Diagnosis of Thalassemia
Thalassemia is diagnosed through a combination of blood tests and genetic tests:
- Complete Blood Count (CBC): To check the levels of hemoglobin and red blood cells.
- Hemoglobin Electrophoresis: To identify the different types of hemoglobin present in the blood.
- Genetic Testing: To identify mutations in the genes responsible for thalassemia.
Early diagnosis is crucial to manage the disease effectively and to prevent complications.
Treatments for Thalassemia
The treatment for thalassemia depends on the type and severity of the disease. The main treatment options include:
- Regular Blood Transfusions: To maintain healthy hemoglobin levels.
- Iron Chelation Therapy: To remove excess iron from the body, which can accumulate due to frequent blood transfusions.
- Folic Acid Supplements: To support the production of red blood cells.
- Bone Marrow or Stem Cell Transplant: The only potential cure for thalassemia, usually recommended for severe cases.
- Gene Therapy: An emerging treatment option that targets the genetic cause of the disease.
Cost of Treatment and Stay in India
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