Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/8165
Title: Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences
Authors: Ardıçoğlu Akışın, N. Yasemin
Arslan, Zafer
Ceylaner, Serdar
Akar, Nejat
Keywords: favism
female
glucose-6-phosphate dehydrogenase deficiency
hemolytic anemia
Iraqi population
Issue Date: 2021
Publisher: Walter De Gruyter Gmbh
Abstract: Objectives 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. Case presentation G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A(p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.
URI: https://doi.org/10.1515/tjb-2021-0088
https://hdl.handle.net/20.500.11851/8165
ISSN: 0250-4685
1303-829X
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
Temel Tıp Bilimleri Bölümü / Department of Basic Medical Sciences
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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