Anaemia Haemoglobinopathies Nomenclature

Thalassaemia

Thalassaemia refers to a genetic abnormality which results in reduced rates of synthesis of a globin gene. The globin gene itself may be normal.

Haemoglobinopathy

Haemoglobinopathy refers to a genetic abnormality which results in a variant haemoglobin being produced; e.g. Hb S in sickle cell anaemia.

Nomenclature

Thalassaemia Nomenclature. When chains are synthesized, but at a reduced rate, the post-script + is used. When chain synthesis is completely absent, 0 is used.

 

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