Your browser doesn't support javascript.
loading
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök, Veysel; Leblebisatan, Göksel; Gürlek Gökçebay, Dilek; Güler, Salih; Dogan, Muhammet Ensar; Tug Bozdogan, Sevcan; Koca Yozgat, Ayça; Özcan, Alper; Pekpak Sahinoglu, Esra; Tokgöz, Hüseyin; Çil, Metin; Özemri Sag, Sebnem; Yilmaz, Ebru; Sasmaz, Hatice Ilgen; Evim, Melike Sezgin; Akbayram, Sinan; Karadogan, Meriban; Mutlu, Fatma Türkan; Boga, Ibrahim; Yeter Dogan, Burcu; Yarali, Nese; Çaliskan, Ümran; Bisgin, Atil; Temel, Sehime Gülsün; Proven, Melanie; Gibson, Kate; Demir, Büsra Seniz; Saraçoglu, Hatice; Eken, Ahmet; Karakükçü, Çigdem; Karakükçü, Musa; Günes, Adalet Meral; Özbek, Namik Yasar; Kilinç, Yurdanur; Patiroglu, Türkan; Özdemir, Mehmet Akif; Roy, Noemi B A; Ünal, Ekrem.
Affiliation
  • Gök V; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Leblebisatan G; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye.
  • Gürlek Gökçebay D; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye.
  • Güler S; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Dogan ME; Department of Medical Genetics, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye.
  • Tug Bozdogan S; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.
  • Koca Yozgat A; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye.
  • Özcan A; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye.
  • Pekpak Sahinoglu E; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Tokgöz H; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye.
  • Çil M; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.
  • Özemri Sag S; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Adana City Hospital, Adana, Türkiye.
  • Yilmaz E; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Sasmaz HI; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Evim MS; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye.
  • Akbayram S; Department of Paediatric Bone Marrow Transplantation, Adana Acibadem Hospital, Adana, Türkiye.
  • Karadogan M; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Mutlu FT; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye.
  • Boga I; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye.
  • Yeter Dogan B; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye.
  • Yarali N; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.
  • Çaliskan Ü; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye.
  • Bisgin A; Department of Paediatric Genetic, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye.
  • Temel SG; Department of Paediatric Haematology and Oncology, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Türkiye.
  • Proven M; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.
  • Gibson K; Department of Paediatric Haematology and Oncology, Faculty of Medicine, KTO Karatay University, Konya, Türkiye.
  • Demir BS; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.
  • Saraçoglu H; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye.
  • Eken A; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Karakükçü Ç; Department of Histology, Faculty of Medicine, Uludag University, Bursa, Türkiye.
  • Karakükçü M; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Günes AM; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Özbek NY; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Kilinç Y; Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Patiroglu T; Drug Application and Research Center, Erciyes University, Kayseri, Türkiye.
  • Özdemir MA; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
  • Roy NBA; Molecular Biology and Genetics Department, Genome and Stem Cell Centre (GENKOK), Gevher Nesibe Genom and Stem Cell Institution, Erciyes University, Kayseri, Türkiye.
  • Ünal E; Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Br J Haematol ; 205(1): 236-242, 2024 Jul.
Article de En | MEDLINE | ID: mdl-38811201
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 PKhexokinase 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.
Sujet(s)
Mots clés
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Pyruvate kinase / Introns / Erreurs innées du métabolisme du pyruvate / Anémie hémolytique congénitale non sphérocytaire Limites: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Pays/Région comme sujet: Asia Langue: En Journal: Br J Haematol Année: 2024 Type de document: Article Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Pyruvate kinase / Introns / Erreurs innées du métabolisme du pyruvate / Anémie hémolytique congénitale non sphérocytaire Limites: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Pays/Région comme sujet: Asia Langue: En Journal: Br J Haematol Année: 2024 Type de document: Article Pays de publication: Royaume-Uni