What is thalassemia?

May 8 is observed as World Thalassemia Day

Thalaseemia is a chronic blood disorder due to which a patient cannot make enough hemoglobin found in Red Blood Cells (RBC’s).

What is Thalassemia?

Thalaseemia is a chronic blood disorder. It is a genetic disorder due to which a patient cannot make enough hemoglobin found in Red Blood Cells (RBC’s). This leads to anemia and patients also require blood transfusions every two to three weeks to survive.

Thalassemias are inherited disorders passed from parents to children through genes. Each red blood cell can contain between 240 and 300 million molecules of haemoglobin. The severity of the disease depends on the mutations involved in the genes, and their interplay.

Types of Thalassemia

Thalassemia minor : In Thalassemia minor, the hemoglobin genes are inherited during conception, one from the mother and one from the father. People with a Thalassemia trait in one gene are known as carriers or are said to have thalassemia minor. Thalassemia minor is not a disease and they have only mild anemia.

Thalassemia Intermedia : These are patients who have mild to severe symptoms.

Thalassemia Major : This is the most severe form of Thalassemia. This occurs when a child inherits two mutated genes, one from each parent. Patients Children with thalassemia major develop the symptoms of severe anemia within the first year of life. They require regular transfusions in order to survive or a bone marrow transplant and are at a grave risk of iron overload and other complications.

Thalassemia patients often suffer from:

• Anemia
• Weak bones
• Delayed or slow growth
• Iron overload in the body
• Poor appetite
• Enlarged spleen or liver
• Pale skin

Facts and figures

- India is the thalassaemia capital of the world with 40 million carriers and over 1,00,000 thalassaemia majors under blood transfusion every month.

- Over 1,00,000 patients across the country die before they turn 20 due to lack of access to treatment.

- The first case of thalassaemia in India was reported in 1938

- Every year 10,000 children with thalassaemia major are born in India.

(Sources: National Health Portal, World Health Organization, Centers for Disease Control and Prevention.)