Most people think anaemia just means low iron — something that can be fixed with tablets or better food. But what if the anaemia never really goes away? It might not be about iron at all. It could be thalassemia — a genetic blood disorder that needs special attention.
What is Thalassemia?
Thalassemia is a genetic blood disorder where the body produces fewer healthy red blood cells and less haemoglobin than normal. Haemoglobin is the protein in red blood cells that carries oxygen, so when it's lacking, the result is anaemia—often chronic and severe.
Understanding the Difference
Anaemia means your body doesn't have enough red blood cells or haemoglobin to carry oxygen effectively. Most people think of it as an iron problem—but that's only one type.
Thalassemia, on the other hand, is an inherited disorder that affects how your body makes haemoglobin. Your red blood cells are formed incorrectly, break down too early, and don’t do their job efficiently.
Signs It Might Be Thalassemia
If your anaemia feels like a never-ending cycle, it’s worth checking for thalassemia. Here are some signs:
• Constant fatigue despite iron treatment
• Pale or yellow-tinged skin
• Delayed growth or development in children
• Enlarged spleen or facial bone changes in severe cases
• A family history of anaemia or unexplained blood disorders
The Problem with Misdiagnosis
Many patients with thalassemia minor (also called trait) go undiagnosed for years because their symptoms are mild. They’re often mistakenly treated with iron, which doesn’t help—and can sometimes cause harm if iron levels build up unnecessarily.
However, this misdiagnosis can result in:
• Harmful iron overload from unnecessary supplements
• Delayed treatment of the actual condition
• Missed opportunities for genetic counselling and awareness in families
This is why proper diagnosis through blood tests and genetic screening is essential. A haemoglobin electrophoresis test can usually detect the disorder.
Types of Thalassemia
There are two main types:
• Alpha Thalassemia: More common in Southeast Asia and parts of Africa
• Beta Thalassemia: Common in the Mediterranean, Middle East, and South Asia
Each has subtypes that range from mild (thalassemia trait) to severe (thalassemia major), where regular blood transfusions are required.
Thalassaemia in India: A Quick Overview
Thalassaemia is relatively common in India, with the country having one of the highest patient numbers globally. Here's what you should know:
• An estimated 3–4% of the Indian population — about 35 to 45 million people — carry the thalassaemia gene (also known as the thalassaemia trait).
• Each year, approximately 10,000 to 15,000 babies are born with thalassaemia major, the most severe form of the disease.
• The condition is more prevalent in specific regions, including Gujarat, Punjab, Maharashtra, West Bengal, and several southern states.
• Certain communities — such as Sindhis, Punjabis, Bhanushalis, and some tribal groups — have especially high carrier rates.
Because carriers typically show no symptoms, screening for the trait—especially before marriage or pregnancy—is crucial to help prevent the birth of children with severe thalassaemia.
What You Can Do
If you or a loved one has chronic anaemia that doesn’t respond to treatment:
• Request a detailed blood test—not just haemoglobin, but specific thalassemia screening.
• Talk to a hematologist or genetic counselor if there's a family history of anaemia.
• Avoid iron supplements unless a doctor confirms iron deficiency.
• Stay informed—thalassemia is manageable with the right care plan.
Thalassemia Tests – At a Glance
1. Complete Blood Count (CBC): Detects small red blood cells and low hemoglobin — common signs of thalassemia.
2. Peripheral Blood Smear: Microscopic check for abnormal red blood cell shapes and sizes.
3. Hemoglobin Electrophoresis / HPLC: Identifies abnormal hemoglobin types (like HbA2, HbF) — key for diagnosis and carrier screening.
4. Genetic Testing: Confirms gene mutations causing thalassemia — useful for family planning. 5. Iron Studies: Helps tell thalassemia apart from iron-deficiency anemia.
Living with Thalassemia
Mild cases (known as thalassemia trait or minor) often don’t need treatment, but awareness is still crucial—especially when planning to have children.
More serious forms (like thalassemia major) may require:
• Lifelong blood transfusions
• Advanced options like bone marrow transplants in some cases
• Iron chelation therapy to avoid iron buildup
Modern treatment has significantly improved the quality of life for people with thalassemia. With proper monitoring, lifestyle adjustments, and in some cases, advanced treatments like stem cell transplants, individuals can lead full, active lives.
Thalassemia Screening at Medivision
At Medivision, we offer comprehensive thalassemia screening designed to identify both minor and major forms of the condition. Our experienced team ensures accurate results through tests like Complete Hemogram (CBC) & Haemoglobin Electrophoresis by HPLC. We also have a comprehensive thalassemia package involving the following tests –
• Transferrin Saturation %
• CBC+ESR
• Electrophoresis – Haemoglobin
• Ferrutin
• Folic acid
• Iron
• PBF
• TIBC
• Transferrin
• Vitamin B12
If you’ve been struggling with chronic anaemia or have concerns about your family history, Medivision ensures you receive the right diagnostic support and personalized care. Early detection is key—take the first step toward better health today with Medivision’s expert screening services.
Final Thoughts
Chronic anaemia is a warning sign that shouldn’t be ignored. If conventional treatments don’t work, it’s crucial to explore genetic causes like thalassemia. With the right diagnosis and care plan, individuals with thalassemia can lead active, fulfilling lives. Whether you're planning a family or seeking answers to persistent anaemia, early screening at Medivision can make all the difference.
