As part of our 28 Days, 28 Rare Diseases campaign, today we focus on Thalassemia—a genetic blood disorder that affects the body’s ability to produce hemoglobin, leading to anemia.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families understand and manage Thalassemia. With early diagnosis and proper care, people with this condition can live healthy, active lives.
What is Thalassemia?
Thalassemia is a genetic condition where the body does not make enough hemoglobin, the protein in red blood cells that carries oxygen. This leads to anemia (low blood count), making people feel weak and tired.
There are two main types of Thalassemia:
✔ Thalassemia Minor (Carrier State) – Usually no symptoms, but can pass the condition to children.
✔ Thalassemia Major (Severe Form) – Requires lifelong blood transfusions and medical care.
Common Signs of Thalassemia Major:
✔ Severe anemia – Constant tiredness and weakness
✔ Pale skin – Due to low blood levels
✔ Slow growth and delayed puberty
✔ Enlarged spleen and liver – Causes belly swelling
✔ Bone changes – Thinning bones, prominent forehead, or jaw changes
Symptoms usually appear in early childhood. Early treatment can prevent complications.
Dr. Roshan Daniel’s Experience with Thalassemia
In practice, Dr. Roshan Daniel has seen many cases of Thalassemia, with different presentations.
✅ Some children are diagnosed at 6-12 months with severe anemia.
✅ Some adults find out they are carriers (Thalassemia Minor) during routine blood tests.
✅ Genetic testing has helped many families understand their risk before planning a baby.
✅ With proper treatment, children with Thalassemia Major live long, active lives.
💡 Cost of Testing (as of February 2025):
✔ Hemoglobin Electrophoresis (Basic Blood Test): ₹1,500 – ₹3,000
✔ Genetic Test (Blood Test): ₹10,000 – ₹20,000, results in 14 working days
How is Thalassemia Diagnosed?
Doctors use different tests to check for Thalassemia.
✔ Blood Test (Hemoglobin Electrophoresis) – Confirms Thalassemia type.
✔ Genetic Test (HBB Gene Analysis) – Detects the exact mutation.
✔ Iron Studies – Helps rule out iron-deficiency anemia.
If one family member has Thalassemia, siblings and relatives should be tested, even if they have no symptoms.
How is Thalassemia Treated?
Treatment depends on the severity of the condition.
🔹 Regular Blood Transfusions – Needed for Thalassemia Major to maintain normal blood levels.
🔹 Iron Chelation Therapy – Prevents iron buildup from transfusions, which can damage organs.
🔹 Bone Marrow Transplant – The only permanent cure, works best in young children.
🔹 Folic Acid Supplements – Helps the body produce healthy red blood cells.
💡 Before, treatments were very expensive. Now, thanks to advances in medicine, costs have come down significantly in India.
With lifelong care, most people with Thalassemia Major can live normal, healthy lives.
Frequently Asked Questions (FAQs) on Thalassemia
💡 What causes Thalassemia?
Thalassemia happens due to a mutation in the HBB gene, which controls hemoglobin production. This causes red blood cells to break down too quickly, leading to anemia.
💡 Is Thalassemia inherited?
Yes. Both parents must be carriers for a child to inherit Thalassemia Major. If both parents are carriers, there is a 25% chance the child will have the severe form.
💡 Can Thalassemia be found before symptoms appear?
Yes. Genetic testing can detect the condition before symptoms start.
✔ Genetic testing for family members is recommended.
✔ Couples planning a baby should check if they are carriers.
💡 Can Thalassemia be diagnosed before birth?
Yes. If both parents are carriers, prenatal genetic testing (amniocentesis or CVS) can check if the baby has Thalassemia Major.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Thalassemia live normal lives?
Yes! With proper treatment, people with Thalassemia can live full, healthy lives.
✔ Regular transfusions keep blood levels normal.
✔ Iron-chelating medicines prevent complications.
✔ Bone marrow transplant offers a chance for a permanent cure.
💡 Dr. Roshan Daniel has treated many patients who, with lifelong care, live completely normal lives.
💡 What happens if Thalassemia is not treated?
Without treatment, severe anemia leads to major complications, including:
✔ Organ damage – Due to low oxygen levels in the blood.
✔ Bone deformities – Because of overactive bone marrow.
✔ Liver and heart problems – From excess iron buildup.
💡 Starting treatment early prevents these problems.
💡 Can Thalassemia happen in future pregnancies?
Yes. If both parents are carriers, each pregnancy has a 25% chance of Thalassemia Major.
✔ Prenatal testing (₹35,000) can check if an unborn baby is affected.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing and Counselling for Thalassemia
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Blood tests to check for Thalassemia
✔ Genetic testing for HBB mutations
✔ Carrier screening for couples planning a baby
✔ Bone marrow transplant consultation
✔ Online genetic counselling for remote patients
If you or a family member has low blood levels, frequent tiredness, or a family history of Thalassemia, early testing can prevent serious issues.
Join Us in Spreading Awareness!
Thalassemia is manageable, but early diagnosis is important. Spreading awareness about symptoms, testing, and treatment can help families make informed choices.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring patients get the right treatment at the right time.
For expert advice on genetic testing, counselling, or Thalassemia care, contact Dr. Roshan Daniel at KIMSHealth today! 💙