THALASSEMIA: A Silent Battle, A Shared Responsibility

Credit By: DR SAADAT NAZIR SHAH

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• 08 May 2026

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In India, where thalassemia is particularly prevalent, awareness is the first step toward reducing the burden

World Thalassemia Day is observed on May 8th. The 2026 theme of world thalassemia day is "Hidden No More: Finding the Undiagnosed. Supporting the Unseen," focuses on improving early diagnosis and supporting overlooked patients.

Thalassemia Day was established on 8th May 1994 by the Thalassemia International Federation (TIF). The day honours people who have battled this hereditary condition and raises awareness about its symptoms and how to improve the quality of life affected by thalassemia.

WHAT IS THALASSEMIA

Thalassemia is a disorder which is inherited from parents to children and affects the body’s ability to produce haemoglobin and Red blood cells. The disease was termed thalassemia, derived from the Greek word “thalassa” for sea, since it was formerly thought that the disease occurs only in the Mediterranean population. However, the disease is not restricted to the Mediterranean and is widely distributed in other tropical countries. The disease was first described by Thomas Cooley (a paediatrician from Detroit, USA) in 1925.

Thalassaemias are a heterogeneous group of inherited disorders of haemoglobin characterised by reduced or absent production of one or more of the globin chains. They are the commonest single-gene disorder in the world. IMPACT can range from mild to severe and even life-threatening. AROUND 100,000 newborns are delivered each year worldwide with thalassemia.

APPROX 7% of the world’s population is affected by haemoglobin disorders, out of this, an estimated 3.9% of the Indian population is affected. This is common in Mediterranean, South Asian and African ancestry. The bone marrow of thalassemia doesn’t produce enough healthy haemoglobin or red blood cells, resulting in anaemia and fatigue.

More severe types can involve organ damage, restricted growth,  heart failure, liver damage and even death. People with mild thalassemia may not require any treatment, but more severe forms will necessitate regular blood transfusions.

TYPES OF THALASSEMIA

Four alpha globin and two beta globin protein chains make up haemoglobin. There are two main types of thalassemia: alpha and beta. Beta thalessemia is more significant and is caused by a point mutation, while most of the alpha thalessemia result from gene deletions.

ALPHA THALASSEMIA

To make the alpha globin protein, we need 4 genes, 2 on each side of chromosome 16; we get 2 from each parent. If one or more of these genes are missing, alpha thalassemia will result:

• If one gene is missing, we call it alpha thalassemia minima.

• If two genes are missing, the patient presents with anaemia, and it is known as alpha thalassemia minor.

• If three genes are missing, the patient has haemoglobin H with chronic anaemia and needs regular blood transfusions throughout their life.

• Alpha thalessemia major with 4 genes missing, the most severe form of alpha thalessemia it is known to cause HYDROPIS FETALIS. A fetus with four mutated genes can’t produce normal Hb and is unlikely to survive.

BETA THALASSEMIA

For the normal globulin chain, we need two genes, one from each parent; if one is mutated, β thalassemia will occur. 

• β thalassemia minor –with one gene mutation.

• β thalassemia major: two genes are mutated.

SIGNS AND SYMPTOMS

These depend on the type of thalassemia. Until the age of 6 months, symptoms are not shown due to fetal haemoglobin. After 6 months, normal haemoglobin starts replacing the fetal type & symptoms begin to appear:

• paleness, jaundice, poor appetite, shortness of breath, drowsiness, easy fatigue, delayed growth, rapid heartbeats, and greater susceptibility to infections.

• Severe anaemia.

• Failure to thrive.

• Hepatosplenomegaly.

• Skeletal & facial changes.

• Frontal bossing and overgrowth of the maxilla produce thalassemia or chipmunk facies.

DIAGNOSIS

BLOOD TESTS:- this includes

• CBC:- Hb levels, MCV, MCH.

• PBF:-shape, size and colour of RBCs.

• RETICULOCYTE COUNT.

• Hb ELECTROPHORESIS.

• GENETIC TESTING.

PREVENTION OF THALASSEMIAS

1) HEALTH EDUCATION: Education of people through mass media communications can create awareness of the disease, its economic load & desirability of prevention.

2) Carrier screening and genetic counselling.

3) Prenatal diagnosis-carried out in couples who have an affected child or couples who are identified as carriers by screening.

TREATMENT – It depends on the type and severity of thalassemia

• BLOOD TRANSFUSIONS -These can replenish haemoglobin and red blood cell levels. Patients with thalassemia need 8 – 12 transfusions in a year.

• IRON CHELATION – due to repeated transfusions, these patients may develop iron overload, which can damage the heart and other organs. So these patients need an iron antidote.

• BONE MARROW OR STEM CELL TRANSPLANT – A transplant from a compatible donor may be an effective treatment in severe cases.

World Thalassemia Day is not just about sympathy—it is about responsibility. Awareness leads to prevention. Simple blood tests before marriage can help identify carriers and prevent the transmission of the disorder to future generations. Public health campaigns, education, and accessible treatment can transform lives.

In India, where thalassemia is particularly prevalent, awareness is the first step toward reducing the burden. Every conversation, every article, and every campaign brings us closer to a future where no child has to suffer unnecessarily.

If you love your children, you should know and understand this disease!

(The Author is an Assistant Professor, Department of Transfusion Medicine (blood centre), GMC Baramulla)