Other haemoglobinopathies caused
by structural change

 

  1. Individuals from certain ethnic backgrounds have an increased risk of carrying a globin chain gene mutation causing a structural variant.
  2. Only a small number of variants capable of causing a severe condition in the homozygote or in compound heterozygotes are encountered in Australia. These include HbS (sickle cell disease), HbC, HbD, HbE, HbO and Hb Lepore.
  3. Testing for haemoglobin variants requires haemoglobin electrophoresis as it is common for no other haematological abnormality to be present.
  4. Partners should have FBE and haemoglobinopathy testing to investigate carrier status for β-thalassaemia and/or haemoglobin variants.
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Table 2

Examples of states causing clinically significant haemoglobinopathies

Table 2

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