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.
Haemolytic anaemia in newborns, infants and juveniles, often with history of jaundice, kernicterus and exchange transfusion
6.2-14.2 U/g Hb
|Sample & container required||4 mL EDTA (lavender top) adults0.5 mL EDTA (lavender top) paediatrics|
|Sample volume||0.5 mL adult tube0.2 mL paediatric tube|
|Turnaround time||Within 21 working days|
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.