Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants
British Journal of Haematology, vol.205, no.1, pp.236-242, 2024 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 205 Issue: 1
- 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
- Page Numbers: pp.236-242
- Keywords: enzyme, haemolytic anaemia, PKD, PKLR, pyruvate kinase
- Ankara Yıldırım Beyazıt 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.