Beth Mytton talks with laboratory staff to gain an insight into the experiences of four hospital sites now using capillary electrophoresis as a front-line method in the diagnosis of haemoglobinopathies.
The haemoglobinopathies are a heterogeneous group of more than 1000 conditions that are categorised into two main groups: the haemoglobin variants and the thalassaemias. The haemoglobin variants (also called the abnormal haemoglobins) arise from an alteration in the globin protein structure, whereas the thalassaemias arise from inadequate production of structurally normal globin protein.
To date, over 1000 different haemoglobin variants have been described, and approximately 300 mutations giving rise to thalassaemia have been identified. Many haemoglobinopathies are of no clinical significance, whereas others are associated with severe morbidity and mortality, most notably sickle cell disease and β-thalassaemia major; carriers are usually asymptomatic. The NHS Sickle Cell and Thalassaemia Screening Programme applies to sickle cell and thalassaemia screening during pregnancy, and sickle cell screening in the newborn period.1
Diagnostic tools
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