Haemoglobinopathies

 

  1. Include α-thalassaemia, β-thalassaemia, sickle cell disease and other haemoglobin variant conditions
  2. Haemoglobinopathy carrier testing should be discussed as part of pre-pregnancy/prenatal care in the
    following individuals:
  3. Family history of anaemia/thalassaemia/abnormal haemoglobin variant
  4. From any of the following ethnic backgrounds: Southern European, Middle Eastern, African, Chinese, South-East Asian, Indian subcontinent, Pacific Islander, New Zealand Maori, South American and some northern Western Australian and Northern Territory Indigenous communities
  5. Partners of any of the above at-risk patients
  6. MCV <81fL or MCH < 27pg
  7. If abnormal blood tests, refer to Genetics Services and/or haematology clinic for genetic counselling and
    testing. This is particularly urgent for pregnant couples.
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Interpretation of haemoglobinopathy carrier testing results

MCH (pg)
Ferritin
Haemoglobin
electrophoresis
Interpretation
> or = 27 Normal Normal Thalassaemia unlikely but one-gene deletion α-thalassaemia not excluded
Normal Hbs present Carrier for sickle cell disease
Low Normal Reduced iron stores or iron deficiency, thalassaemia unlikely but one-gene deletion α-thalassaemia not excluded
<27 Normal HbA2 increased
HbH present		 Carrier for β-thalassaemia
HbA2 normal
HbH present		 Carrier for α-thalassaemia
HbS present Carrier for sickle cell disease
Possible co-existent thalassaemia carrier state
Normal Possible carrier for α-thalassaemia
DNA testing indicated
Low Normal Iron deficiency
Thalassaemia may coexist
If woman is pregnant, seek advice about DNA testing; test partner for full haemoglobinopathy screen
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