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

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Gök V., Leblebisatan G., Gürlek Gökçebay D., Güler S., Doğan M. E., Tuğ Bozdoğan S., ...More

British journal of haematology, vol.205, no.1, pp.236-242, 2024 (SCI-Expanded) identifier identifier

  • 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
  • Bursa Uludag University Affiliated: Yes

Abstract

Summary Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heteroge neity of PK deficiency (PKD) is high, and over 400 unique variants have been iden tified. 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 nor mal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.