J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-35744 | DOI: 10.4274/jcrpe.galenos.2021.2021-11-10
Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus
Burçe Orman1, Semra Çetinkaya
1, Nergiz Öner
2, Meltem Akçaboy
3, Ali Fettah
2, Naz Güleray Lafcı
4, Şenay Savaş Erdeve
11Department of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey
2Department of Pediatric Hematology, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey
3Department of Pediatrics, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey
4Department of Genetics, Hacettepe University, Ankara, Turkey
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.
Keywords: diabetes mellitus, G6PD, anemia
Corresponding Author: Burçe Orman, Türkiye
Manuscript Language: English