Thalassemia is a group of inherited blood disorders characterized by the body’s inability to produce adequate amounts of Haemoglobin, the protein in red blood cells that carries oxygen. People with thalassemia inherit genes from one or both parents that cause them to make less hemoglobin or hemoglobin that doesn't function properly.  This can lead to a condition called anemia, which means the body doesn't have enough healthy red blood cells. 

8 May - World Thalassemia Day:

World Thalassemia Day or International Thalassemia Day is observed every year on 8 May in honour of all patients suffering from Thalassemia and to motivate them as they struggle to live with the disease. This day also encourages their parents who have never lost hope for life, despite the burden of the disease. 

Thalassemia in India:

Thalassemia is a prevalent genetic disorder in India, (particularly beta-thalassemia) with significant regional variations and a substantial impact on public health. Continued efforts in public health education, screening, and treatment support are essential to manage and reduce the burden of thalassemia in India.


Thalassemia is a significant public health issue in India, where its prevalence is relatively high. It is estimated that roughly five crore (50 million) Indians are carriers, and around 10,000 to 15,000 children are born with severe Thalassemia (beta-thalassemia major) annually. The prevalence of Thalassemia carriers (people with one altered gene) can range widely, from 0.2% to 21.8% in different studies. South India generally has a higher burden compared to other regions. Studies report a carrier prevalence of 8.50% to 37.90% in South India, while Central India ranges between 1.4 and 3.4%.

Certain regions and communities in India have higher prevalence rates of thalassemia. These include, Gujarat, Punjab, West Bengal, Tamil Nadu, and Maharashtra, etc. Eastern India's tribal communities show a complex picture. The prevalence of Thalassemia traits and other hemoglobinopathies can vary significantly (between 0% to 30.5% for carrier traits) compared to non-tribal populations. While there are some regions that have comparatively lower prevalence rates, though carriers and affected individuals are found nationwide.

Factors Contributing to High Prevalence:

Here are some reasons for the high prevalence:
  • Genetic diversity: India's vast population with numerous ethnicities has led to a wider gene pool, including genes for Thalassemia. 
  • Marriage patterns:  In some communities, consanguineous (cousin) marriages are common, increasing the risk of thalassemia. Certain communities have higher rates of marriages within the same group, unintentionally increasing the chance of inheriting Thalassemia if both parents carry the trait.
  • Lack of Awareness: Limited awareness and education about thalassemia contribute to its high prevalence, as many people are unaware of their carrier status.
  • Inadequate Screening Programs: While there are efforts to implement screening programs, coverage is still not comprehensive across the country.

Types of Thalassemia:

Thalassemia is classified based on which part of the haemoglobin molecule is affected:

1. Alpha Thalassemia: This type occurs when there's a problem with the genes that control the production of the alpha globin chains of hemoglobin.

  • Alpha Thalassemia Trait (Silent Carrier): Usually causes no health problems.
  • Alpha Thalassemia Minor: Mild anaemia.
  • Haemoglobin H Disease: Moderate to severe anaemia and health complications.
  • Alpha Thalassemia Major (Hydrops Fetalis): Typically, fatal before or shortly after birth.

2. Beta Thalassemia: This type occurs when there's a problem with the genes that control the production of the beta globin chains of hemoglobin.

  • Beta Thalassemia Minor (Trait): Usually mild anaemia.
  • Beta Thalassemia Intermedia: Moderate anaemia, requires occasional blood transfusions.
  • Beta Thalassemia Major (Cooley’s Anaemia): Severe anaemia, requires regular blood transfusions.


Thalassemia is caused by mutations in the genes responsible for producing haemoglobin. These mutations are inherited from parents. This means that it's passed down from parents to children through their genes. If you carry one gene for thalassemia, you're a carrier of the disease but you won't usually have any symptoms. However, if you and your partner are both carriers of thalassemia, there's a risk of passing the condition on to your children.

  • Alpha Thalassemia: Caused by mutations in the HBA1 and HBA2 genes.
  • Beta Thalassemia: Caused by mutations in the HBB gene.

The severity of thalassemia depends on how many of these genes are affected.


Symptoms vary depending on the type and severity of thalassemia:

1. Mild Thalassemia (Trait): 

    - Often asymptomatic or mild anaemia.

2. Moderate to Severe Thalassemia:

    - Fatigue and weakness

    - Pale or yellowish skin 

    - Shortness of breath

    - Facial bone deformities

    - Slow growth

    - Abdominal swelling (due to an enlarged spleen)

    - Dark urine


Thalassemia is typically diagnosed through:

1. Blood Tests:

  • Complete Blood Count (CBC): Checks for low red blood cell count and haemoglobin levels.
  • Haemoglobin Electrophoresis: Identifies abnormal haemoglobin types.
  • DNA Testing: Detects mutations in the HBA1, HBA2, or HBB genes.

2. Prenatal Testing:

  • Chorionic Villus Sampling (CVS): Tests the placenta for genetic abnormalities.
  • Amniocentesis: Tests the amniotic fluid for genetic abnormalities.


There is no cure for thalassemia, but there are treatments based on the type and severity of thalassemia, that can help manage the condition and improve quality of life. Treatment for thalassemia may include:

1. Mild Thalassemia:

  • Often requires no treatment or only occasional monitoring.

2. Moderate to Severe Thalassemia:

  • Regular Blood Transfusions: This is the main treatment for severe thalassemia. Regular blood transfusions can help increase the number of healthy red blood cells in the body, to maintain adequate haemoglobin levels.
  • Iron Chelation Therapy: When you receive regular blood transfusions, your body can absorb too much iron from the transfused red blood cells. Iron chelation therapy helps remove excess iron (a common side effect of frequent blood transfusions) from the body and prevent organ damage.
  • Folic Acid Supplements: To support red blood cell production.
  • Bone Marrow or Stem Cell Transplant: In some cases, a bone marrow transplant may be an option for people with severe thalassemia. A bone marrow transplant is a procedure that replaces diseased bone marrow with healthy bone marrow from a donor.
  • Gene Therapy: Emerging treatment aimed at correcting the genetic defect. 
  • Role of Homeopathy: Some recent studies suggest that homeopathic remedies can play a supportive role in managing thalassemia symptoms. They claim these remedies might help improve overall well-being, boost the immune system, and enhance the body’s ability to cope with anaemia and other symptoms. It was also seen that patients who used Homeopathy required less blood transfusion than patients who didn't. 

    While homeopathy does not replace conventional medical treatments for thalassemia, some patients may choose to use homeopathic remedies as a complementary approach to help manage minor symptoms or improve overall health. Patients should always consult with their Homeopathic Physician before considering it to ensure safe and effective management of their condition.

Management and Lifestyle:

Managing thalassemia involves regular medical care and lifestyle adjustments:

  • Regular Check-ups: Frequent visits to your physicians.
  • Diet and Nutrition: Balanced diet rich in folate; avoid iron-rich foods and iron supplements unless advised.
  • Exercise: Regular, moderate exercise.
  • Vaccinations: Stay updated to prevent infections, especially if the spleen is removed.
  • Psychosocial Support: Counselling and support groups to help cope with chronic illness.

Complications of Thalassemia:

If left untreated, thalassemia can lead to serious complications, including:

  • Heart failure
  • Liver problems
  • Slowed growth and development
  • Increased risk of infection


The prognosis for thalassemia varies depending on the severity of the condition. With proper treatment, people with mild thalassemia can live long and healthy lives. People with severe thalassemia may require lifelong treatment and may have a shortened lifespan. The prognosis for individuals with thalassemia varies as under:

  • Mild Thalassemia: Normal life expectancy with minimal impact.
  • Moderate Thalassemia: Generally good with proper management, though complications can occur.
  • Severe Thalassemia: Requires intensive treatment; complications such as iron overload and organ damage can affect life expectancy, but advances in treatment have significantly improved outcomes.

Prevention of Thalassemia:

There is no way to prevent thalassemia. However, if you're considering having children and you or your partner has a family history of thalassemia, you can talk to a genetic counsellor or your family physician about it. This can help you understand your risk of having a child with thalassemia.

Government and Public Health Efforts:

The Indian government and various health organizations have initiated several programs to address thalassemia:

  1. Screening and Counselling Programs: These programs aim to identify carriers and provide genetic counselling to at-risk couples.
  2. Prenatal Diagnosis: Efforts are being made to provide accessible prenatal diagnostic facilities to detect thalassemia in foetuses.
  3. Public Awareness Campaigns: Campaigns to educate the public about thalassemia, its implications, and the importance of screening.
  4. Support for Patients: Initiatives to provide better care and support for individuals living with thalassemia, including blood transfusion services, homeopathic support and chelation therapy.


Despite these efforts, several challenges remain:

  • Resource Limitations: Limited healthcare resources and infrastructure, particularly in rural areas.
  • Stigma and Discrimination: Social stigma and discrimination against affected individuals and carriers.
  • Cost of Conventional Treatment: High cost of conventional treatment, including regular blood transfusions and chelation therapy, which can be a financial burden for families.

Ray of Hope:

India has made significant advancements in the detection and management of thalassemia, including the development of Thalassemia detection cards. These cards are designed to be a cost-effective, simple, and rapid tool for screening thalassemia carriers, particularly in resource-limited settings. Here's an overview of the thalassemia detection card:

Overview of Thalassemia Detection Cards

Thalassemia detection cards, also known as NESTROFT (Naked Eye Single Tube Red Cell Osmotic Fragility Test) cards, are used for preliminary screening to identify individuals who might be carriers of thalassemia. The card-based test is particularly useful for large-scale screening programs.

Key Features and Benefits

  1. Cost-Effective: The detection cards are inexpensive compared to other laboratory-based diagnostic tests, making them accessible for widespread use.
  2. Simple and Rapid: The test can be performed quickly and does not require sophisticated equipment or extensive training.
  3. Field-Friendly: These cards are designed for use in field settings, making them suitable for remote and rural areas where laboratory facilities may not be available.
  4. Non-Invasive: The test typically involves a simple finger-prick blood sample, which is less invasive than venous blood draws.

How the Thalassemia Detection Card Works

  1. Sample Collection: A small blood sample is obtained using a finger prick.
  2. Application: The blood sample is applied to a designated area on the card.
  3. Reagent Addition: A reagent that tests for red blood cell osmotic fragility is added to the sample.
  4. Observation: The card is observed for changes in colour or clarity, which indicate the presence of abnormal haemoglobin or increased red blood cell fragility associated with thalassemia carriers.

Advantages and Limitations


  • Ease of Use: Requires minimal training and can be used by primary health workers.
  • Quick Results: Provides results within minutes.
  • Scalability: Suitable for mass screening in large populations.


  • Preliminary Screening: The test is a preliminary screening tool and not a definitive diagnostic test.
  • False Positives/Negatives: There is a possibility of false positive or false negative results, necessitating confirmatory testing with more specific methods like haemoglobin electrophoresis or DNA analysis.

Implementation in India

The use of thalassemia detection cards has been implemented in various public health programs across India. These initiatives focus on early detection, especially among high-risk populations and communities with high prevalence rates of thalassemia. Government and non-governmental organizations collaborate to conduct screening camps, particularly targeting schools, colleges, and community health centres.


Overall, Thalassemia is a significant public health concern in India. Efforts are underway for increased carrier screening, genetic counselling, and better management of the disease. The development and use of thalassemia detection cards in India represent an important step in the fight against thalassemia. By enabling early identification of carriers, these cards help in raising awareness, facilitating timely counselling, and implementing preventive measures to reduce the incidence of thalassemia major in the population. Continued efforts in improving the accuracy and accessibility of these screening tools are essential for effective thalassemia management and control in India.

Disclaimer: The author disclaims all liability for any loss or risk, personal or otherwise incurred as a consequence of use of any material in this article. This information is not a substitute for professional medical advice, diagnosis or treatment.