When is DNA analysis of globin gene mutations appropriate?

An accurate diagnosis of thalassaemia or haemoglobinopathy may be needed to: explain haematological abnormality or anaemia, not otherwise understood confirm a diagnosis of severe disorders such as sickle cell disease, or b-thalassaemia major characterise the mutation underlying a thalassaemia carrier state, particularly for a-thalassaemia where the molecular basis can only be determined by analysis of DNA test for silent mutations which might have clinical significance if inherited with a mutation from the other parent, for example silent a- or b-thalassaemia or coexistent a-thalassaemia in a b-thalassaemia or HbE carrier provide accurate genetic counselling to individuals and prospective parents identify serious disorders in the fetus and hence provide the additional option to an at-risk couple of termination of pregnancy fully characterise a variant haemoglobin more.

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