Thalassemia: A Public Health Challenge

Context

On World Thalassemia Day awareness campaigns highlighted the pressing need to improve early diagnosis, preventive screening, and management of thalassemia, a major inherited blood disorder affecting millions globally, particularly in South Asia.

What is Thalassemia?

Thalassemia is a hereditary disorder affecting the production of haemoglobin, the oxygen-carrying protein in red blood cells. Individuals with this disorder either produce less haemoglobin or abnormal forms of it, leading to anaemia and oxygen deficiency in tissues.

Causes and Genetic Basis

Caused by mutations or deletions in the genes responsible for haemoglobin chain synthesis (alpha or beta).
It is inherited in an autosomal recessive manner, meaning a child must inherit the defective gene from both parents to develop the severe form.
Carriers (thalassemia minor) usually show no or mild symptoms but can pass the gene to offspring.

Types of Thalassemia

Alpha Thalassemia:

Caused by deletions in up to four alpha-globin genes.
Common in people of Southeast Asian, Middle Eastern, and African descent.
Severity varies based on the number of affected genes.

Beta Thalassemia:

Due to mutations in the beta-globin gene.
More prevalent in Mediterranean, South Asian, and Chinese populations.
Includes:
- Thalassemia Minor – usually asymptomatic or mild anaemia.
- Thalassemia Major (Cooley’s Anaemia) – severe anaemia requiring lifelong transfusions.

Symptoms

Chronic fatigue and weakness
Pale or jaundiced skin
Facial bone deformities
Growth retardation in children
Enlarged spleen and liver
Breathlessness

Health and Societal Impact

Affects both life expectancy and quality of life, especially in untreated major cases.
Causes significant emotional, financial, and social stress on families.
In developing regions, lack of awareness and screening leads to a higher disease burden.

Treatment Options

Supportive Therapies

Regular blood transfusions to maintain haemoglobin levels.
Iron chelation therapy to manage iron overload from transfusions.

Curative Options

Bone marrow/stem cell transplant – the only definitive cure, but with limited accessibility and success rates.

Other Measures

Genetic counselling and prenatal screening to prevent disease transmission.
Vaccinations, nutritional support, and psychological care as part of holistic management.

Way Forward

Nationwide carrier screening programmes to identify at-risk couples.
Integration of thalassemia care into public health services under schemes like Ayushman Bharat.
Promotion of research and indigenous treatment innovations.
Strengthening awareness, blood donation systems, and counselling infrastructure.