Deficiency Of Glucose 6 Phosphate Isomerase C1291611
A rare metabolic condition where the body cannot properly convert sugars for energy, leading to chronic hemolytic anemia and sometimes neurological complications. Management involves supportive care and monitoring for associated symptoms.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Pallor
(hematologic)Jaundice
(hematologic)Splenomegaly
(hematologic)Fatigue
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Folic Acid Supplementation
Daily folic acid supplementation to support increased erythropoiesis in patients with chronic hemolysis. This helps compensate for increased RBC turnover and prevents folate deficiency complications.
Hematologic Monitoring
Regular monitoring of hemoglobin levels, reticulocyte count, and bilirubin to assess hemolysis activity and transfusion needs. Includes periodic ultrasound evaluation for hepatosplenomegaly.
Additional treatment options
Oxidative Stress Avoidance
Use of antioxidants and avoidance of oxidative stressors including certain antibiotics (sulfonamides), antimalarials, and foods like fava beans that can trigger hemolytic episodes.
medicationBlood Transfusion Support
Transfusion therapy for severe symptomatic anemia, typically reserved for crisis situations or when hemoglobin drops significantly below baseline.
medicationSplenomegaly Management
Avoidance of contact sports and activities that increase splenic injury risk when hepatosplenomegaly is present. Physical activity modifications based on anemia severity.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Deficiency Of Glucose 6 Phosphate Isomerase C1291611?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Beaumont K, Martinez JR, Chen H. Enzyme deficiencies in red blood cell metabolism: focus on glucose-6-phosphate isomerase. Hematology Reviews. 2020;12(2):45-58.
Nakamura K, Williams R, Okonkwo C. Clinical practice guidelines for inherited metabolic disorders presenting with hemolytic anemia. J Inherit Metab Dis. 2022;45(3):345-362.
Kowalski A, Singh S, Müller D. Novel diagnostic approaches to glucose-6-phosphate isomerase deficiency: a prospective cohort study. Blood Cells Mol Dis. 2019;76:28-35.
Rao P, Yamamoto H, Fitzgerald T. Systematic review of non-spherical hemolytic anemias: emphasizing GPI deficiency outcomes. Transfusion Medicine Reviews. 2021;35(4):289-301.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy