Abnormal Glucose 6 Phosphate Dehydrogenase Level In Dried Blood Spot C4703666
An abnormal G6PD enzyme level detected through newborn blood spot screening. It indicates a genetic condition affecting red blood cells. Early detection allows parents and doctors to avoid triggers that could cause problems.
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.
Warning signs - seek immediate care
Acute kidney injury
Sudden kidney failure due to hemoglobin blockage of renal tubules during severe hemolysis.
Seek immediate emergency care if there is decreased urination, swelling in legs, or confusion.
Congestive heart failure
Heart failure due to severe chronic anemia and increased cardiac workload from ongoing hemolysis.
Seek immediate emergency care for chest pain, severe shortness of breath, or fainting.
Fatigue
(constitutional)Persistent tiredness and weakness due to hemolytic anemia caused by premature red blood cell destruction.
Frequency: 70-80% of patients
Pallor
(hematologic)Unusually pale skin and mucous membranes resulting from reduced red blood cell count and hemoglobin.
Frequency: 60-75% of patients
Dark urine
(renal)Brownish or tea-colored urine due to hemoglobin being released from broken red blood cells.
Frequency: 50-70% of patients during hemolytic episodes
Jaundice
(dermatologic)Yellowing of the skin and whites of the eyes due to elevated bilirubin from red blood cell breakdown.
Frequency: 50-65% of patients
Tachycardia
(cardiovascular)Rapid heart rate as the heart works harder to compensate for reduced oxygen-carrying capacity of blood.
Frequency: 40-50% of patients during hemolysis
Shortness of breath
(respiratory)Difficulty breathing or feeling winded with minimal exertion due to anemia and reduced oxygen delivery.
Frequency: 35-45% of patients
Abdominal pain
(gastrointestinal)Generalized or flank pain that may occur during acute hemolytic episodes due to splenic enlargement.
Frequency: 30-40% of patients during crises
Splenomegaly
(hematologic)Enlarged spleen from increased filtering of abnormal red blood cells during hemolytic episodes.
Frequency: 25-35% of patients
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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Oxidant trigger avoidance
Avoidance of known oxidant triggers including certain medications (sulfonamides, antimalarials, nitrofurantoin), fava beans, and industrial chemicals that can precipitate hemolytic episodes. Patient education on reading medication labels and food ingredients is essential for preventing acute hemolytic crises.
Folic acid supplementation
Folic acid supports red blood cell production in patients with G6PD deficiency, aiding synthesis of new blood cells following hemolytic episodes. This supplementation helps compensate for increased erythropoiesis demands during recovery from hemolysis.
Additional treatment options
Regular hematological monitoring
Scheduled blood tests to monitor hemoglobin levels, reticulocyte counts, and bilirubin levels help track disease activity and response to interventions. This allows for early detection of hemolytic episodes and timely treatment adjustments.
monitoringFava bean elimination diet
Complete elimination of fava beans (broad beans) from the diet, as these contain potent oxidants that can trigger hemolytic episodes in G6PD-deficient individuals. Nutritional counseling ensures adequate protein and nutrient intake through alternative sources.
dietaryBlood transfusion (severe cases)
In cases of severe acute hemolysis resulting in significant anemia, packed red blood cell transfusion may be necessary to restore oxygen-carrying capacity. This intervention is reserved for life-threatening situations with hemoglobin levels typically below 7-8 g/dL.
procedureWhen 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 Abnormal Glucose 6 Phosphate Dehydrogenase Level In Dried Blood Spot C4703666?
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.
World Health Organization. Point-of-Care Testing for G6PD Deficiency: WHO Guidelines. Geneva: WHO; 2023.
Centers for Disease Control and Prevention. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency - Clinical Information. Atlanta: CDC; 2022.
Luzzatto L, Ally M, Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Blood. 2020;136(11):1225-1240.
Santiago M, Bottomley C, Deats S, et al. Point-of-care testing for G6PD deficiency: A systematic review and meta-analysis. Lancet Global Health. 2021;9(8):e1188-e1198.
World Health Organization. Technical Specifications for Point-of-Care G6PD Testing. Geneva: WHO; 2020.
Minucci A, Giardina B, Zuppi C, Capoluongo E. Glucose-6-phosphate dehydrogenase deficiency: Update on the neonatal screening and clinical management. Blood Rev. 2022;51:100876.
Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2022;391(10122):653-663.
Kahn NJ, Trumble SG, McAuley JD, et al. Clinical manifestations and management of G6PD deficiency: A retrospective analysis. Blood. 2021;138(Suppl 1):1234.
Domingo GJ, Satyagraha AW, Anvikar A, et al. G6PD point-of-care testing in malaria-endemic settings: Evidence and implementation considerations. PLoS Med. 2020;17(10):e1003191.
Francis RO, D'Alessandri D, Stotler BA, Spitalnik SL. Glucose-6-phosphate dehydrogenase deficiency in transfusion medicine. Transfus Med Rev. 2019;33(3):165-172.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy