Pyruvate kinase
PK deficiency is the most commonly encountered inherited defect of the Embden-Meyerhof pathway, with heterozygous frequencies that vary from 0.14 % in the US to 6 % in Saudi Arabia. PK deficiency is probably the most common single known cause of hereditary non-spherocytic haemolytic anaemia. It can be inherited in both an autosomal dominant and recessive fashion.
This disorder manifests clinically as a haemolytic anaemia, but symptoms may be less severe than the haematological indices indicate. The clinical severity of this disorder varies widely, ranging from a mildly compensated anaemia to severe anaemia of childhood. Neuro-developmental abnormalities should be interpreted with caution, as severe neonatal hyperbilirubinaemia, sufficient to cause kernicterus, has been described in deficiency of several red cell enzymes, including G6PD and PK. However, most affected individuals do not require treatment. In the most severe cases, death may occur in utero as a result of anaemia, or blood transfusions or splenectomy may be required, but most symptoms are limited to early life and to times of physiological stress or infection.
Haemolytic anaemia in newborns, infants and juveniles, often with history of jaundice, kernicterus and exchange transfusion
Variable presentation of anaemia, from mild to severe, often associated with growth delay or failure to thrive
Cholecystolithiasis (usually after the first decade of life but possibly in childhood)
More obvious symptoms during times of physiological stress including acute illness (particularly viral) and in pregnancy
6.2-14.2 U/g Hb
Special handling: samples received from outside Imperial College Hospital require an FBC and reticulocyte count result with a blood film and a control sample to monitor transport conditions.
Record last updated
August 27, 2025
Sample Container
4ml EDTA Vacutainers (Lavender top)
Sample Container
K2EDTA Paediatric Tube (Lavender top)
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Test Results
Yes, we have a Pathology User Guide
Yes. Please email your request to Imperial.nwlpcustomerservice@nhs.net
Results are communicated to clinical staff and are normally not communicated direct to patients either on telephone requests or in written report. If you need to contact us please click here to view the contact details page
Please contact the Customer Service Team Monday to Friday from 8:30am – 6:00pm on 0203 313 5353. Alternatively, see the Pathology User Guide for how to contact the relevant department. If advice is not urgent you can also email your query to Imperial.nwlpcustomerservice@nhs.net
Additional tests may be added by discussion with the relevant laboratory. The time limit for adding additional tests to a sample already received in the laboratory will depend on the type of sample and the department it was sent to.
Information on the repertoire of tests performed by pathology, including reference ranges, turnaround times and specimen requirements, can be found in the test directory.
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NWLP operates UKAS accredited medical laboratories as per the references below. The current scope of accreditation for all NWLP’s laboratories can be found on the UKAS website.
See the following UKAS ref numbers:
- Clinical Biochemistry Ref: 8673
- Haematology and Blood Transfusion Ref: 8674
- Infection & Immunity Sciences (Including Immunology, Virology, Microbiology and Histocompatibility and Immunogenetics ) Ref: 8659
- Cellular Pathology (Including Histopathology, Cytology and Molecular Pathology) Ref: 9615
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UKAS requires the laboratories to be accredited for a particular repertoire/scope (ISO15189), any changes or additions to repertoire require assessment by UKAS (extension to scope).
The BD Hospital Tube Guide, BD GP Tube Guide and BD Paediatric Tube Guide provide visual references to the correct tube types and collection instructions.
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Upholding excellence in diagnostic standards
Our laboratories are accredited by the UK Accreditation Service (UKAS) against the international standard ISO15189:2022. UKAS is the accreditation body for the UK that assesses medical laboratories.
Find out more about our accreditations on the UKAS website.
UKAS website