Inhaled oxygen is carried throughout the body by an oxygen-carrying protein in the red blood cells—haemoglobin— providing energy to our organs. Without this oxygen circulation, we would feel fatigued, pale, unenthusiastic, and be severely anaemic. If a person genetically has less haemoglobin than normal, the disease is called thalassaemia.
Thalassaemia is caused by mutations in the DNA of cells that make haemoglobin. These mutations are passed from parents to children. Haemoglobin molecules are made of alpha and beta chains that can be affected by mutations. In thalassaemia, the production of either the alpha or beta chains is reduced, resulting in either alpha-thalassaemia or beta-thalassaemia. The severity of thalassaemia one has depends on the number of gene mutations inherited from one’s parents. The more mutated the genes, the more severe the thalassaemia.
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