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Haemoglobinopathy screen

Category Haematology
Test background

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.

Clinical Indications

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

Reference range

HbF 0.2-1.2 % HbA2 2.3-3.4 %

Sample & container required 4 mL EDTA (lavender top) adults; 0.5 mL EDTA (lavender top) paediatrics
Sample volume 0.5 mL adult tube; 0.2 mL paediatric tube
Turnaround time 1-3 days depending on the day of arrival