Alpha Thalassaemia

  • This section is dedicated to alpha (a-) thalassaemia.

    • THE MAJOR ALPHA (a-) THALASSAEMIAS ARE:
    HbH disease
    α-thalassaemia Hydrops Foetalis
    (=Hb Bart’s Hydrops Foetalis)

  • 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, such as a-thalassaemia, and ß-chain (ß-globin gene) diseases, such as ß-thalassaemia major and sickle cell disease. These genes are found on chromosomes 16 and 11 respectively, producing equal amounts of a and ß chains respectively which match together to a2ß2 to produce the normal adult haemoglobin (HbA, a2ß2).



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