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What is Thalassaemia?
What is Thalassaemia?

Thalassemia’s are inherited blood disorders characterized by decreased haemoglobin production. causing chronic anaemia. Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called haemoglobin, an important part of red blood cells. When there isn’t enough haemoglobin, the body’s red blood cells don’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream.

Red blood cells carry oxygen to all the cells of the body. Oxygen is a sort of food that cells use to function. When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anaemia. People with thalassemia may have mild or severe anaemia. Severe anaemia can damage organs and lead to death.
It affects many people from the Mediterranean, Middle and Southeast Asia, the Far East and can be found in some parts of Africa, and many countries in Europe as a result of migration.

There are two main types of thalassaemia
  • α-thalassaemia (or alpha thalassaemia) occurs when a gene or genes related to the α-globin protein are missing or changed (mutated), and
  • β-thalassaemia (or beta thalassaemia) occurs when similar gene defects affect production of the β-globin protein.

Each one of the above-mentioned types has many different subtypes. Therefore, both α- and β- thalassaemia include the following three forms:

  • Thalassaemia major
  • Thalassaemia intermedia
  • Thalassaemia minor (or thalassaemia trait)
Flexible Utilization
Inheritance Pattern

Thalassemia affects approximately 1 in 2,500. The prevalence of each type of thalassemia also varies depending on ethnicity.
Alpha thalassemia is particularly common among populations of Southeast Asian descent. There are also a high number of carriers in Sub-Saharan Africa and Western Pacific regions.
Beta thalassemia is most common among populations of Mediterranean, African and/or South Asian ancestry.

Symptoms of Thalassaemia
Symptoms of Thalassaemia

NOTE: In the most severe forms of beta thalassaemia the anaemia is so severe that unless it is corrected regularly by blood transfusion the patient will die early in life (mostly in infancy). The condition is then known as transfusion dependent thalassaemia or TDT.