التفاصيل البيبلوغرافية
| العنوان: |
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants. |
| المؤلفون: |
Gök, Veysel, Leblebisatan, Göksel, Gürlek Gökçebay, Dilek, Güler, Salih, Doğan, Muhammet Ensar, Tuğ Bozdoğan, Sevcan, Koca Yozgat, Ayça, Özcan, Alper, Pekpak Şahinoğlu, Esra, Tokgöz, Hüseyin, Çil, Metin, Özemri Sağ, Şebnem, Yilmaz, Ebru, Şaşmaz, Hatice İlgen, Evim, Melike Sezgin, Akbayram, Sinan, Karadoğan, Meriban, Mutlu, Fatma Türkan, Boğa, İbrahim, Yeter Doğan, Burcu |
| المصدر: |
British Journal of Haematology; Jul2024, Vol. 205 Issue 1, p236-242, 7p |
| مصطلحات موضوعية: |
PYRUVATE kinase, TURKS, HEMOLYTIC anemia, GENETIC counseling, ENZYMES |
| مستخلص: |
Summary: 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. [ABSTRACT FROM AUTHOR] |
|
Copyright of British Journal of Haematology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
Full Text Finder