| Literature DB >> 35306802 |
Burçe Orman1, Semra Çetinkaya1, Nergiz Öner2, Meltem Akçaboy3, Ali Fettah2, Naz Güleray Lafcı4, Şenay Savaş Erdeve1.
Abstract
Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary for the oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans; it is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, 9 cases have been described in the literature. Genetic analysis was not performed for G6PD deficiency in patients in the literature. We present a case of hemolytic anemia due to G6PD deficiency secondary to newly diagnosed diabetes.Genetic testing was performed for the index patient and revealed a previously reported missense pathogenic variant (c.653C>T; p.Ser218Phe) in G6PD gene.Entities:
Keywords: G6PD; anemia; diabetes mellitus
Year: 2022 PMID: 35306802 DOI: 10.4274/jcrpe.galenos.2021.2021-11-10
Source DB: PubMed Journal: J Clin Res Pediatr Endocrinol