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According to PubMed Central, approximately 1.31 million individuals were living with thalassemia worldwide in 2021. The highest prevalence rate of the disease was reported in countries like Cambodia, Laos, Thailand, and Myanmar, ranging from 89.74 to 177.47 per 100,000 persons.
To spread awareness about this disease, World Thalassemia Day is observed on 8th May, serving as a global initiative to emphasise the challenges that individuals with thalassemia face, promote early diagnosis and treatment of the disease and advocate for equal access to care worldwide.
In this blog, we’ll understand every aspect of the condition and the importance of this year’s theme of World Thalassemia Day.
What is Thalassemia?
Thalassemia is an inherited blood disorder affecting the body’s ability to produce haemoglobin- the protein in RBCS responsible for transporting oxygen to the body parts. This condition is caused by mutations in the genes involved in haemoglobin production.
World Thalassemia Day 2025: Theme
This year’s theme for World Thalassemia Day 2025 is “Together for Thalassaemia: Uniting Communities, Prioritising Patients.” It aims to highlight the importance of a patient-centred approach, encouraging the need for holistic care that addresses both emotional and social needs of affected individuals.
It calls for global support in ensuring that healthcare policies are made keeping in mind thalassemia patients. The themes for the past three years include:
2024: "Empowering Lives, Embracing Progress: Equitable and Accessible Thalassemia Treatment for All"
2023: "Be Aware. Share. Care: Strengthening Education to Bridge the Thalassemia Care Gap"
2022: "Be Aware. Share. Care: Working with the Global Community as One to Improve Thalassemia Knowledge"
Origin of World Thalassemia Day
World Thalassemia Day was first organised on 8th March 1994 by Thalassaemia International Federation (TIF), a non-profit organisation, founded in 1986 by Panos Englezos. In honour of his son George and several other thalassemia patients who battled this disease, he started this day.
Every year, the theme changes, highlighting different aspects of thalassemia care and prevention. Over the years, it has spread its horizon, reaching every corner of the globe, especially in countries with a high prevalence, such as the Mediterranean, the Middle East, Southeast Asia, and South Asia.
Types of Thalassemia
There are two major types of thalassemia: alpha-thalassemia and beta-thalassemia. Both are genetic blood disorders affecting the ability of RBCS to carry oxygen.
Alpha Thalassemia: This type of thalassemia occurs when the body fails to produce enough haemoglobin to carry oxygen. It leads to severe anaemia, depending on how many of the alpha-globin genes of haemoglobin are missing. The severity of the condition depends on the number of missing genes.
Beta Thalassemia: This type of thalassemia results from mutations in the beta-globin genes responsible for producing the beta chains of haemoglobin. These mutations can result in either reduced production, known as a beta-plus mutation, or a complete absence, known as a beta-zero mutation, of the beta-globin chains. This disruption affects the normal formation of haemoglobin, making red blood cells less effective at carrying oxygen throughout the body.
Symptoms of Thalassemia
The symptoms of Thalassemia vary depending on the type and severity of the condition. Individuals with mild thalassemia show no prominent signs. However, severe forms show early symptoms such as:
- Poor appetite
- Pale or yellowish skin
- Fatigue and weakness
- Irritability
- Delayed growth and development
- Enlarged spleen
- Frequent Infections
- Shortness of Breath
- Facial Bone Changes
Risk Factors of Thalassemia
The major factors that increase the risk of developing thalassemia include:
- Family history of thalassemia
- Ethnicity
- Carriers of the thalassemia gene
- Genetic mutations
Diagnosis of Thalassemia
Diagnosis of thalassemia involves a combination of blood tests, family history review and even genetic analysis. These tests help determine the presence of thalassemia and its type and severity. Some common diagnostic tests include:
Complete Blood Count (CBC)
This is the first test performed by doctors to diagnose thalassemia. It measures various components of the blood- RBCS, haemoglobin levels and other cell counts. In thalassemia, the CBC typically shows low haemoglobin and a reduced number of RBCS- common signs of anaemia.
Haemoglobin Electrophoresis
This test distinguishes the different types of haemoglobin in the blood, such as Hba (normal haemoglobin), Hbs, and Hbf (fetal haemoglobin). In thalassemia, this type helps detect abnormal haemoglobin types such as Hbs or Hbe, which are associated with various forms of thalassemia.
Genetic Testing
Since thalassemia is caused by inherited genetic mutations, genetic testing helps in pinpointing whether an individual has inherited a thalassemia gene from one or both parents. This test confirms the diagnosis when family history is unclear or if an individual is a carrier without any symptoms.
Peripheral Blood Smear
This diagnostic test involves viewing a blood sample under a microscope to evaluate the shape, size and appearance of red blood cells. In individuals with thalassemia, these cells might look pale, smaller and have irregular shapes.
Treatment of Thalassemia
Generally, mild forms of thalassemia do not require treatment. However, the most widely used treatment options for severe thalassemia include:
Blood Transfusions
This type of treatment is primarily used for treating severe thalassemia. It provides the body with RBCS containing healthy haemoglobin. They are mostly recommended for thalassemia major patients who often need regular transfusions to maintain ideal haemoglobin levels.
Note: Over time, transfusions cause iron buildup in your blood that can damage your heart, liver and other organs.
Chelation Therapy
This treatment works effectively in removing the excessive iron buildup from your body, developed as a result of frequent transfusions. It uses medications that can be given orally or intravenously. Commonly used medications include deferasirox or deferiprone.
Stem Cell Transplant
Stem cells are found in the bone marrow and can transform into different types of blood cells. In a stem cell transplant, a donor replaces the patient’s faulty bone marrow with healthy stem cells. These stem cells travel to the bone marrow and produce healthy RBCS to replace the faulty ones.
Prevention of Thalassemia
Although Thalassemia cannot be prevented, the following measures can reduce the risk of this condition in newborns:
Prenatal Screening: Pre-birth screening reduces the risk of having a child with thalassemia by detecting carriers and at-risk fetuses. The process includes carrier screening for couples at risk and prenatal screening, such as amniocentesis, to confirm the fetus’s condition.
Parent Genetic Test: This test involves screening individuals to determine if they carry the thalassemia gene. It often involves a blood test checking for abnormal forms of haemoglobin that indicate thalassemia.
Public Awareness and Education: These include campaigns directed at educating the public about the causes, symptoms and prevention of thalassemia. This helps in reducing the stigma and misconceptions around thalassemia.
Cure Within Reach with Care Health Insurance!
Thalassemia is a genetic blood disorder that cannot always be prevented. However, it’s possible to reduce the risk through prenatal screenings, parental genetic tests and public awareness campaigns.
World Thalassemia Day aims to spread awareness about the disease by educating individuals about its types, signs, and treatment options. This day brings the challenges faced by individuals with thalassemia to the table and promotes early detection and treatment.
Unfortunately, if your child is born with thalassemia or any other birth defect, it will be an emotional battle. However, you would be relieved to know that some health insurance plans in India provide coverage for birth defects. At Care Health Insurance, we have designed a plan especially for expecting mothers and newborns- JOY. It offers maternity coverage with benefits such as newborn baby coverage and birth defects coverage. Give your child the care he/she deserve.
>> Also Read: Health Insurance Offer Coverage for Annual Health Checkups?
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