Thalassemia

What is Thalassemia?

Thalassemia is a hereditary blood disorder caused by mutations in the genes responsible for producing hemoglobin chains—specifically the alpha and beta chains. Hemoglobin is the protein in red blood cells that carries oxygen.

Types

Alpha Thalassemia: Defect in alpha chain production.
Beta Thalassemia: Defect in beta chain production.
Thalassemia Minor: One mutated gene; usually asymptomatic.
Thalassemia Major: Two mutated genes; more severe symptoms.

The severity depends on how many gene mutations are inherited. It is most common in individuals from Asia, the Middle East, Africa, and Mediterranean countries like Greece and Turkey.

Causes

Inherited from parents through mutated hemoglobin genes. If both parents are carriers, the child has a high chance of developing a severe form.

Diagnosis

Blood Tests

Complete Blood Count (CBC): Checks RBC shape, size, hemoglobin level
Reticulocyte Count: Measures young RBC levels (low in thalassemia)
Iron Studies: Differentiates between iron deficiency and thalassemia
Hemoglobin Electrophoresis: Detects beta thalassemia
Genetic Testing: Identifies alpha thalassemia

Symptoms usually appear in the first two years of life for moderate/severe cases.

Treatment

Treatment depends on the type and severity:

For Moderate to Severe Cases:

Blood Transfusions: Every 2–4 weeks to maintain hemoglobin and oxygen levels
Iron Chelation Therapy: Removes excess iron from frequent transfusions
Folic Acid Supplements: Supports red blood cell production
Bone Marrow / Stem Cell Transplant: Only known cure; requires HLA-matched donor

Transplanted cells begin producing healthy red blood cells within a month.

Long-term Management

Patients require consistent follow-up and care:

Monitor iron overload
Avoid iron-rich foods like spinach and fortified cereals
Adhere to transfusion and chelation schedules
Consult with specialists like hematologists, cardiologists, and endocrinologists

Frequently Asked Questions

Q: Who should I consult for thalassemia?
A: Start with a hematologist. In some cases, you may also need a cardiologist, endocrinologist, or gastroenterologist.

Q: Can thalassemia patients live a normal life?
A: Yes, with proper treatment and monitoring.

Q: Is thalassemia inherited?
A: Yes, it's a genetic condition passed from parents to children.

Q: What is a thalassemia carrier?
A: A person with one mutated gene. Typically asymptomatic but can pass it on to offspring.

Q: Is thalassemia fatal?
A: Thalassemia minor is not fatal. Thalassemia major can be life-threatening without treatment.

Q: Can thalassemia be cured?
A: Bone marrow transplant is the only potential cure, though donor compatibility is a challenge.

Q: How common is it?
A: Beta-thalassemia is widely prevalent. Thousands of infants are born with it annually.

Q: When should testing be done?
A: Before planning a family or early in pregnancy.

Q: What documents are needed for treatment in India?
A: Carry your full medical history, test results, prescriptions, and doctor’s contacts when seeking treatment in India.