Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants

GÖK V., LEBLEBİSATAN G., Gürlek Gökçebay D., Güler S., Doğan M. E., Tuğ Bozdoğan S., ...More

British Journal of Haematology, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2024
  • Doi Number: 10.1111/bjh.19575
  • Journal Name: British Journal of Haematology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, BIOSIS, CAB Abstracts, EMBASE
  • Keywords: enzyme, haemolytic anaemia, PKD, PKLR, pyruvate kinase
  • Çukurova University Affiliated: Yes

Abstract

Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.