Disorders of globin chain synthesis (thalassaemias and haemoglobin variants) are common in the UK and can cause significant morbidity. Diagnosis is required to

1) confirm a provisional diagnosis;

2) to explain haematological changes such as microcytic anaemia;

3) detection in the presymptomatic phase such as in the neonatal period;

4) to identify foetuses at risk of significant haemoglobinopathies and offer the parents informed choice;

5) to allow genetic counselling of prospective parents; 

6) to identify the presence of sickle haemoglobin preoperatively.

Declaration of Interests

The BSH paid the expenses incurred during the writing of this guidance. None of the authors had conflicts of interest to declare. All authors have made a declaration of interests to the BSH and Task Force Chairs which may be viewed on request.