What is Thalassaemia?

Thalassaemia is an inherited blood disorder that affects red blood cells and hemoglobin production. It is one of the most common genetic conditions in Malaysia and occurs in both males and females.

There are two main forms:

• Thalassaemia carrier (minor): Usually no or mild symptoms, often requiring no treatment.
• Thalassaemia patient (major): Severe form that may require regular blood transfusions and lifelong care.

Globally, around 7% of the population are carriers of hemoglobin disorders, making Thalassaemia one of the world’s most common inherited diseases.

Types of Thalassaemia

Thalassaemia arises from mutations in the genes responsible for hemoglobin production:

1. Alpha Thalassaemia

• Caused by mutations in the α-globin gene.

• Severity depends on the number of gene mutations inherited:

  • 1 to 2 mutations → usually mild or no symptoms.

  • 3 mutations → moderate to severe symptoms.

  • 4 mutations → very severe; often fatal at birth or requires lifelong transfusion and, in rare cases, stem cell transplantation.

2. Beta Thalassaemia

• Caused by mutations in the β-globin gene.

• Classified into:

  • Thalassaemia Intermedia – moderate symptoms.

  • Thalassaemia Major (Cooley’s Anemia) – severe, often requiring regular blood transfusions and medical management.