Sign up & Download
Sign in

The laboratory diagnosis of haemoglobinopathies

by B. J. Bain, R. J. Amos, D. Bareford, C. Chapman, S. C. Davies, J. M. Old, B. J. Wild, I. Cavill, K. Hyde, E. Matutes, J. Reilly, J. K. Wood show all authors
British Journal of Haematology ()


The laboratory diagnosis of haemoglobinopathies, including the thalassaemias, is of growing importance, particularly because of an increasing requirement for antenatal diagnosis of significant disorders of globin chain synthesis. This guideline discusses the laboratory tests which are most useful in the diagnosis of haemoglobinopathies and describes their role in specific clinical circumstances. Of the newer technical methods, high-performance liquid chromatography (HPLC) is of considerable importance whereas isoelectric focusing (IEF) and immunoassay for variant haemoglobins have a more minor role. Specific recommendations have been formulated for testing in relation to genetic counselling and for neonatal diagnosis. Methods used in specialized laboratories for fetal diagnosis have been tabulated. Genetic counselling requires: (i) identification of haemoglobins S, C, D-Punjab, O-Arab, E, Lepore and H, and (ii) the detection of carriers of alpha(0) and beta thalassaemia. It is recommended that subjects of all ethnic groups be screened for beta-thalassaemia trait, all except Northern European Caucasians for variant haemoglobins, and selected ethnic groups for alpha(0)-thalassaemia trait. Testing for beta-thalassaemia trait should be carried out when the mean cellular haemoglobin (MCH) is < 27 pg and testing for alpha(0)-thalassaemia trait should be considered when the MCH is < 25 pg. Appropriate methods include HPLC or haemoglobin electrophoresis for identification of variant haemoglobins and HPLC or microcolumn chromatography for quantification of haemoglobin A2.

Cite this document (BETA)

Readership Statistics

21 Readers on Mendeley
by Discipline
by Academic Status
14% Student (Postgraduate)
14% Other Professional
14% Post Doc
by Country
5% Indonesia
5% Kenya
5% Malaysia

Sign up today - FREE

Mendeley saves you time finding and organizing research. Learn more

  • All your research in one place
  • Add and import papers easily
  • Access it anywhere, anytime

Start using Mendeley in seconds!

Sign up & Download

Already have an account? Sign in