Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus

Area of Science:

• Biochemistry
• Genetics
• Hematology

Background:

• Glucose 6 phosphate dehydrogenase (G6PD) is crucial for cellular oxidant stress defense.
• G6PD deficiency is the most prevalent human enzymopathy, often leading to hemolytic anemia.
• Severe hemolytic anemia linked to G6PD deficiency can occur in newly diagnosed diabetes, particularly during hyperglycemia management.

Observation:

• This report details a case of hemolytic anemia in a patient with newly diagnosed type 1 diabetes mellitus.
• Previous cases of G6PD deficiency-related anemia in diabetes lacked genetic analysis.
• The index patient underwent genetic testing for G6PD deficiency.

Findings:

• Genetic analysis identified a previously documented missense pathogenic variant (c.653C>T; p.Ser218Phe) in the G6PD gene.
• This variant was confirmed as the cause of G6PD deficiency in the patient.
• The findings establish a genetic basis for the observed G6PD deficiency in this diabetic patient.

Implications:

• This case underscores the importance of considering G6PD deficiency in patients with newly diagnosed diabetes presenting with hemolytic anemia.
• Genetic confirmation of G6PD deficiency is vital for accurate diagnosis and management.
• Increased clinical vigilance is recommended during hyperglycemia correction in diabetic patients with potential G6PD deficiency.