Thalassaemia

An inherited blood disorder where the body makes less haemoglobin, causing anaemia. Severe forms need regular blood transfusions.

BloodInheritedLast updated: 21 October 2026

Quick Summary

Primary Symptoms

Thalassaemia minor: usually no or mild symptoms. Major: severe anaemia, poor growth, pale skin, tiredness and bone changes from early childhood.

Common Treatments

Regular blood transfusions and iron chelation for thalassaemia major; bone marrow transplant can cure some children.

Risk Factors

Inherited from parents who carry the gene. More common in some communities in India.

Overview

Thalassaemia is caused by changes in the genes that make haemoglobin. People who carry one gene (thalassaemia minor or trait) are usually healthy.

If both parents are carriers, each child has a 1 in 4 chance of thalassaemia major. Carrier testing before marriage or pregnancy helps families make informed choices.

Symptoms

Tiredness and weakness

From anaemia.

Pale or yellow skin

In thalassaemia major.

Bone changes

Facial bone changes and weak bones.

Poor growth

Delayed growth and puberty in children.

Causes & Risk Factors

Biological Causes

Inherited mutations in the genes for alpha or beta globin, parts of haemoglobin.

Key Risk Factors

  • Family history Both parents carrying the gene.
  • Community Higher carrier rates in some groups.
  • Carrier status Thalassaemia minor is often mistaken for iron deficiency.

Management & Treatment

01. Blood transfusions

Regular transfusions for thalassaemia major.

02. Iron chelation

Medicines remove extra iron from transfusions.

03. Bone marrow transplant

A possible cure for some children.

Frequently Asked Questions

Should carriers take iron tablets?
Not unless they also have iron deficiency; a doctor should check.
Can it be prevented?
Carrier screening and prenatal testing help families plan.
How is it diagnosed?
With a blood count and haemoglobin electrophoresis or HPLC.

Sources and further reading

Last updated 21 October 2026. For more detail, see these trusted health organisations.