What is Thalassemia?
Ever heard of a condition where your body struggles to make healthy red blood cells? That’s thalassemia — a genetic blood disorder where the body doesn’t produce enough hemoglobin, the protein in red blood cells that carries oxygen.
In simpler terms, it’s like having a delivery truck (your red blood cell) with a weak engine (hemoglobin). If the engine’s faulty, oxygen delivery across the body becomes sluggish, leading to fatigue, weakness, and more serious complications.
Thalassemia is inherited, meaning it’s passed down from parents to children. It’s more common in people from Southeast Asia, the Mediterranean, the Middle East, and parts of Africa. According to the WHO, over 5% of the world’s population carries a gene for a hemoglobin disorder, mostly thalassemia or sickle cell anemia.
How Does Thalassemia Happen?
To understand how thalassemia occurs, imagine this: your body has a blueprint (your genes) for making hemoglobin. In thalassemia, this blueprint is flawed.
There are two main parts of hemoglobin — alpha and beta chains. If the body can’t make enough of either one, red blood cells become fragile and die off quickly, which leads to anemia. This problem starts from birth because the faulty genes are inherited.
- Alpha thalassemia occurs when the genes that control alpha globin are missing or changed.
- Beta thalassemia happens when similar changes affect the beta globin genes.
People with only one affected gene (trait carriers) often don’t show symptoms but can still pass the gene to their children.
What Are the Causes of Thalassemia?
Thalassemia is caused by mutations in the genes responsible for hemoglobin production. It’s not something you catch or develop from your lifestyle — it’s inherited.
There are two main types:
- Alpha thalassemia: Caused by mutations or deletions in one or more of four alpha-globin genes. The more genes affected, the more severe the disease.
- Beta thalassemia: Results from mutations in the beta-globin gene on chromosome 11.
Globally:
- Alpha thalassemia trait is more common in Southeast Asia and Africa.
- Beta thalassemia trait is more common around the Mediterranean, Middle East, and parts of India.
About 1.7% of couples worldwide are at risk of having a child with a severe form of thalassemia .
Who’s at Risk?
Thalassemia doesn’t randomly appear — it follows family lines. The main risk comes from inheriting the gene. If both parents carry the thalassemia trait, there’s a 25% chance with each pregnancy that the child will have thalassemia major.
You’re at higher risk if:
- You have a family history of thalassemia
- You come from high-prevalence areas like:
- Southeast Asia (including Malaysia, Thailand)
- The Middle East
- India
- The Mediterranean region
- You marry a partner with the same trait (e.g., both beta-thalassemia carriers)
Carrier screening is especially crucial in communities with high carrier rates.
What Are the Symptoms of Thalassemia?
Symptoms can vary widely, depending on the type and severity of the condition.
Common symptoms include:
- Chronic tiredness or fatigue
- Pale or yellowish skin (due to anemia and breakdown of red cells)
- Delayed growth or puberty in children
- Bone deformities, especially in the face and skull (common in untreated thalassemia major)
- Dark urine (from breakdown of red blood cells)
- Enlarged spleen or liver
Why do these symptoms occur? Because without enough hemoglobin, your cells are starving for oxygen. To compensate, your bone marrow works overtime to make red cells, which can distort bone structure.
What Could It Be Besides Thalassemia? (Differential Diagnosis)
Thalassemia can mimic other forms of anemia. That’s why doctors need to be careful with diagnosis.
The most common conditions that resemble thalassemia are:
- Iron deficiency anemia: This is the most common anemia worldwide. Unlike thalassemia, it responds well to iron supplements.
- Sideroblastic anemia: Iron is present, but the body can’t use it properly.
- Chronic disease anemia: Seen in long-standing illnesses like infections or autoimmune disorders.
Sometimes, doctors misdiagnose thalassemia carriers as having iron deficiency. That’s why accurate testing is crucial.
How Is Thalassemia Diagnosed?
Wondering how doctors confirm thalassemia? The key is in your blood tests.
Gold standard test:
- Hemoglobin electrophoresis or HPLC (High Performance Liquid Chromatography)
This test separates different types of hemoglobin and detects abnormalities — it’s the most reliable method to diagnose beta thalassemia.
Other investigations include:
- Complete blood count (CBC): Shows anemia and smaller-than-normal red cells.
- Peripheral blood smear: Red cells look pale and irregular.
- Genetic testing: Especially important for prenatal diagnosis or confirming silent carriers.
- Ferritin test: To rule out iron deficiency.
How Is Thalassemia Treated?
There is no universal cure for thalassemia — but treatments can manage symptoms and improve quality of life.
For thalassemia trait (minor):
- No treatment is needed.
- Just regular monitoring and avoiding unnecessary iron supplements.
For thalassemia major or intermedia:
Treatment is more intensive:
1. Regular blood transfusions
- Every 2–4 weeks for those with thalassemia major.
- Helps maintain healthy hemoglobin levels.
- Downside: Iron builds up in the body.
2. Iron chelation therapy
- Removes excess iron from repeated transfusions.
- Medications include:
- Deferoxamine (Desferal) – injection
- Deferasirox (Exjade, Jadenu) – oral
- Deferiprone (Ferriprox) – oral
3. Folic acid supplements
- To support red blood cell production.
4. Bone marrow or stem cell transplant
- The only potential cure, especially effective in children with a matched sibling donor.
- High risk and not suitable for everyone.
5. Gene therapy (experimental but promising)
- Trials are underway to correct the faulty gene.
6. Splenectomy (spleen removal)
- Considered if spleen becomes too enlarged and destroys too many red blood cells.
Living with Thalassemia
Thalassemia is a lifelong condition, but with proper management, many people live full and active lives.
Tips:
- Avoid iron-rich foods if you’re on transfusions.
- Get vaccinated (especially against hepatitis B and pneumococcus).
- Attend regular follow-ups.
- Genetic counselling is essential before planning a family.
References
- World Health Organization. (2022). Thalassaemia and other haemoglobinopathies. Retrieved from https://www.who.int/news-room/fact-sheets/detail/thalassaemia
- Centers for Disease Control and Prevention (CDC). (2022). Thalassemia. Retrieved from https://www.cdc.gov/ncbddd/thalassemia/index.html
- National Heart, Lung, and Blood Institute. (2023). What is Thalassemia? Retrieved from https://www.nhlbi.nih.gov/health/thalassemia
- Thalassaemia International Federation. (2023). Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT). https://thalassaemia.org.cy/publications/