{Reference Type}: Journal Article
{Title}: Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
{Author}: Gök V;Leblebisatan G;Gürlek Gökçebay D;Güler S;Doğan ME;Tuğ Bozdoğan S;Koca Yozgat A;Özcan A;Pekpak Şahinoğlu E;Tokgöz H;Çil M;Özemri Sağ Ş;Yilmaz E;Şaşmaz Hİ;Evim MS;Akbayram S;Karadoğan M;Mutlu FT;Boğa İ;Yeter Doğan B;Yarali N;Çalişkan Ü;Bişgin A;Temel ŞG;Proven M;Gibson K;Demir BŞ;Saraçoğlu H;Eken A;Karakükçü Ç;Karakükçü M;Güneş AM;Özbek NY;Kilinç Y;Patiroğlu T;Özdemir MA;Roy NBA;Ünal E;
{Journal}: Br J Haematol
{Volume}: 0
{Issue}: 0
{Year}: 2024 May 29
{Factor}: 8.615
{DOI}: 10.1111/bjh.19575
{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.