“Thalassemia” is a hereditary anemia commonly found in Thailand. Statistics show that about 40% of Thai people are carriers without knowing it. If not properly diagnosed and managed, some patients may experience severe anemia, easy fatigue, jaundice, enlarged liver and spleen, and are at risk of life-threatening complications.

The important thing is that thalassemia can be prevented if we are aware, get screened before marriage or before having children, and plan treatment with a specialist doctor. Thalassemia is an anemia caused by genetic abnormalities, resulting in the body producing abnormal hemoglobin, causing red blood cells to break easily and leading to chronic anemia.

Thalassemia is divided into 2 main types:

α-thalassemia abnormality caused by the gene producing the alpha chain of hemoglobin
β-thalassemia abnormality caused by the gene producing the beta chain of hemoglobin 

The severity of the disease can be divided into 3 groups:

1. Carrier no symptoms but can pass the abnormal gene to children
2. Minor Thalassemiamild anemia, non-severe symptoms
3. Major Thalassemiasevere anemia, requires continuous blood transfusion and treatment 
Causes of Thalassemia Anemia 
Thalassemia anemia is caused by abnormal genetic inheritance from parents to children If both parents are carriers, each pregnancy has a chance of 

- 25% chance of severe thalassemia anemia
- 50% chance of being a carrier
- 25% chance of being normal
Genetic screening before marriage or before having children is important to prevent passing abnormal genes to the next generation 

Symptoms of Thalassemia Anemia 
Early Stage
- Pale, easily fatigued
- Dizziness, lightheadedness
- Abnormal rapid heartbeat 

There are several methods to detect thalassemia anemia depending on risk and family history, including:

- Complete Blood Count (CBC) to detect anemia
- Hb typing test to identify hemoglobin types
- DNA testing to identify the type of genetic abnormality
- Spouse screening recommended before marriage or before having children
Moderate to Severe Stage
- Chronic pale and jaundice
- Enlarged liver and spleen
- Prominent forehead, high cheekbones (in untreated patients)
- Delayed growth in children
Possible Complications
- Heart failure
- Fragile and easily broken bones
- Iron overload from frequent blood transfusions
- Recurrent infections 
Treatment of Thalassemia Anemia depends on the severity of the disease and the patient’s symptoms

1. Blood Transfusion for patients with severe anemia, requiring blood every 3–4 weeks to increase hemoglobin levels adequately
2. Iron Chelation Therapy for patients receiving frequent blood transfusions to reduce iron accumulation in the body
3. Bone Marrow Transplant is a curative treatment suitable for children with genetically matched siblings
4. New drugs and specialized treatments such as Luspatercept and ongoing research on Gene Therapy to increase the chance of cure in the future

Prevention of Thalassemia Anemia 
Since thalassemia anemia is a hereditary disease, prevention is more important than treatment, and should include

1. Blood screening before marriage
2. Screening spouses before having children
3. Genetic counseling
4. Prenatal screening if both parents are carriers 

Self-care for Thalassemia Anemia Patients 
1. Follow doctor’s advice
2. Eat nutritious food, avoid high iron foods
3. Exercise lightly and regularly
4. Regular health check-ups and strict follow-up with doctors
5. Take care of mental health and receive family support 
Thalassemia is a hereditary anemia that cannot be 100% prevented, but early screening and proper treatment can help patients have a better quality of life and reduce the risk of passing the disease to future generations.

Assoc. Prof. Dr. Usnaras Anurathapan

Pediatric Hematology and Oncology Specialist

Phyathai 2 Hospital