HAEMOGLOBINOPATHIES

This CPA accredited laboratory specialises mainly in haemoglobinopathy investigations, which includes diagnosis and monitoring. The service provides diagnosis for a range of haemolytic anaemias, including enzyme deficiencies (G6PD), pyruvate kinase (PK) and hereditary spherocytosis (HS), and is an international referral laboratory for liver and cardiac irons.  

Automated high performance liquid chromatography (HPLC), capillary electrophoresis (CE) and sickle solubility are the methods of choice for the diagnosis of common haemoglobinopathy abnormalities. DNA analysis is available from the haemoglobinopathy genetics molecular laboratory for diagnosing unknown haemoglobin variants and thalassaemias.

Measurement of haemoglobin A1C in the presence of a haemoglobin variant by boronate affinity methodology is included in the repertoire of tests available.

Quantitative assay for red cell enzymes is by spectrometry and a flowcytometric method is employed for the diagnosis of HS. Erythropoietin measurement, useful for differentiating primary and secondary polycythaemia and assessing response to anaemia is offered.

The laboratory provides a service to large populations of patients with major haemoglobinopathies. As such, access to rapid results for monitoring purposes, particularly pre and post-red cell exchanges is crucial, is provided. The workload also includes screening for a large antenatal population and complies with the national sickle cell and thalassaemia screening programme guidelines.

Teaching and training is an integral part of the laboratory culture and currently holds IBMS pre- and post-registration training approval for completion of the IBMS Registration Portfolio and Specialist Diplomas.  

 

HSL is a progressive partnership between The Doctors Laboratory, Royal Free London NHS Foundation Trust (the Royal Free London) and University College London Hospitals NHS Foundation Trust (UCLH)

Health Services Laboratories
Health Services Laboratories
Health Services Laboratories