Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences

Autor: Ardicoglu Akisin Yasemin, Arslan Zafer, Ceylaner Serdar, Akar Nejat
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Türk Biyokimya Dergisi, Vol 46, Iss 6, Pp 729-731 (2021)
Druh dokumentu: article
ISSN: 1303-829X
DOI: 10.1515/tjb-2021-0088
Popis: Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation.
Databáze: Directory of Open Access Journals