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Oxford University Hospitals NHS Foundation Trust

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National Reference Laboratory for Haemoglobinopathies

Haemoglobinopathies constitute the commonest monogenic disorders worldwide. They are caused by mutations which affect the genes that direct the synthesis of haemoglobin and may result in a reduced synthesis (thalassaemia syndromes) or structural changes (haemolytic anaemia, polycythaemia or more rarely cyanosis). Sickle cell disease, beta thalassaemia major and E/beta thalassaemia are three of the commonest and most clinically significant forms of these genetically inherited disorders.

As these conditions occur so frequently it is not unusual for individuals to carry more than one haemoglobinopathy mutation. Consequently, thalassaemia mutations and various abnormal haemoglobins often interact to produce a wide range of disorders of varying degrees of severity. The resulting disease states from these complex interactions can be challenging to interpret and diagnose.

The UK National Haemoglobinopathy Reference Laboratory (NHRL) was established in 1982 by the department of health under the auspices of Professor Sir David Weatherarall. It provides a national service for the laboratory diagnosis of haemoglobinopathies. The unit utilises an integrated phenotypic and genetic approach to diagnosis, using haematological techniques (Red Cell indices, HPLC and Iso-electric focusing) and an extensive range of molecular techniques to identify all known haemoglobinopathy mutations.

Specifically the laboratory provides five broad types of investigation:

More information about the haemoglobinopathies can be found in review articles by Dr John Old (Director of the NHRL):

  • 'Screening and genetic diagnosis of haemoglobin disorders' Blood Rev, 2003; Mar:17(1):43-53.
  • 'Screening and genetic diagnosis of haemoglobin disorders' Scand J Clin Lab Invest, 2007; 67(1):71-86.