Beta Thalassaemia

What is beta thalassaemia?

Beta thalassaemia is a type of inherited blood disorder that can cause anaemia (a low number of red blood cells). It affects a person's ability to produce haemoglobin, the protein in red blood cells that delivers oxygen to all parts of the body.

Signs and symptoms of beta thalassaemia are severe in the form of the disorder known as thalassaemia major and less severe in the form called thalassaemia intermedia. Signs and symptoms of thalassaemia major appear in the first 2 years of life. Infants become pale and listless, have a poor appetite, grow slowly, and often develop jaundice (yellowing of the skin). The spleen, liver, and heart may also be enlarged. Adolescents with the severe form may experience delayed puberty. Individuals with thalassaemia intermedia may have no symptoms or mild symptoms through childhood and adolescence.

How common is beta thalassaemia?

Worldwide, beta thalassaemia is considered a fairly common blood disorder, affecting thousands of infants each year. Beta thalassaemia occurs most frequently in Mediterranean countries, North Africa, the Middle East, India, and southeast Asia. In North America, the disorder is less common; an estimated 750-1000 people have beta thalassaemia.

What genes are related to beta thalassaemia?

Mutations in the HBB gene cause beta thalassaemia.

The HBB gene produces one of the subunits of haemoglobin, called beta haemoglobin or the beta chain. Mutations in the HBB gene can reduce or abolish the production of beta-haemoglobin, leading to abnormal haemoglobin that cannot perform its function as an oxygen carrier.

How do people inherit beta thalassaemia?

Beta thalassaemia major and thalassaemia intermedia are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. Sometimes, however, carriers of the altered HBB gene have a mild anaemia referred to as thalassaemia minor.

In a small percentage of families, the HBB mutation is inherited in an autosomal dominant manner. In these cases, one copy of the altered gene in each cell is sufficient to cause the disorder.

What other names do people use for beta thalassaemia?

  • Cooley's anaemia
  • Erythroblastic anaemia
  • Mediterranean anaemia
  • thalassaemia intermedia
  • thalassaemia Major

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