BETA THALASSAEMIA

This section is dedicated to beta (ß-) thalassaemia syndromes of which ß-thalassaemia major, also known as Mediterranean anaemia or Cooley's Anaemia, is the clinically most severe one.

THE MAJOR BETA (ß-) THALASSAEMIA SYNDROMES ARE:
β-thalassaemia major
β-thalassaemia intermedia
HbE/β-thalassaemia
Other rare thalassaemias

Many diseases in humans are caused by abnormalities in the blood and these are categorized according to the component of the blood which is affected: white cell diseases, platelet diseases and red cell diseases.

Haemoglobin disorders or haemoglobinopathies are a group of conditions affecting human blood - more specifically an important substance or protein called haemoglobin contained in the red blood cells, hence the name haemoglobin disorders or haemoglobinopathies.

Haemoglobin is a protein that consists of the alpha (a) and beta (ß) parts or chains and which are in turn produced by the a-globin genes and ß-globin genes respectively. Hence the diseases caused by haemoglobin abnormality either with regards to its production or its structure are divided into a-chain diseases (or a-globin gene) diseases and ß-chain (ß-globin gene) diseases. These genes are found on chromosomes 16 and 11 respectively.

Patients with ß-thalassaemia major, the most severe form of thalassaemia, cannot make normal adult haemoglobin, which is made up of equal numbers of a- and ß-chains, and as a consequence cannot produce normal red blood cells (RBCs). In these individuals, i.e. those with ß-thalassaemia major, each red blood cell contains much less haemoglobin, because the ß-globin genes are not working or functioning properly and thus do not or produce very small amounts of ß-chains. Consequently, there are far fewer red cells than the normal range. This causes anaemia, which is severe in these patients, as shown in the figure below on the right hand side.

*RBCs are round, concave, red cells, of equal shape and sizes

*RBCs are weak, pale, variety of shapes (poikitocytosis) and sizes (anisocytosis)

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