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Thalassaemia major

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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This refers to a condition where the β globin synthesis is so reduced that regular blood transfusions are required to sustain life (1).

This refers to individuals who are:

  • homozygous beta0 - ie beta0/beta0; or
  • homozygous beta+ - ie beta+/beta+

Affected individuals develop profound anaemia from about the third month of life. Fetal haemoglobin (HbF) is generally raised to between 30 and 60%; the HbA2 concentration is variable.

Reference:

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