Haemoglobinopathy screen

Haemoglobinopathies are inherited disorders of globin, the protein component of haemoglobin (Hb). Mutations in the globin genes that alter protein output produce the thalassaemia syndromes; those that lead to structurally abnormal proteins are called variant Hbs. The most commonly occurring haemoglobin variants include Hb D, S, C and E. Haemoglobinopathies are the most common genetic defect worldwide with an estimated 269 million carriers. Certain populations are particularly at risk of having a haemoglobinopathy, for example, those from some Mediterranean countries, from Southeast Asia, and from sub-Saharan Africa.

Disorders of globin chain synthesis, both thalassaemias and haemoglobin variants, are common in the UK and constitute a significant public health problem. Diagnosis may be required:
- to confirm a provisional diagnosis, such as sickle cell disease or β-thalassaemia major to explain a haematological abnormality, such as anaemia or microcytosis
- to identify an abnormality in the presymptomatic phase, for neonatal screening, to identify fetuses at risk of significant haemoglobinopathies and offer the parents informed choice, or
- to permit genetic counseling of prospective parents
- to identify the presence of sickle cell haemoglobin preoperatively

HbF 0.2-1.2 % HbA2 2.3-3.4 %