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:
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|