D55.0 Anemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency

Name of the Condition

• Anemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency

Summary

Anemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hemolytic anemia caused by a genetic deficiency in the G6PD enzyme, which protects red blood cells from oxidative damage. This deficiency leads to premature destruction of red blood cells, reducing the blood's oxygen-carrying capacity and causing anemia. The condition is typically triggered by oxidative stressors, such as certain medications, infections, or foods like fava beans.

Causes

The condition is caused by genetic mutations that reduce or eliminate the activity of the G6PD enzyme, which is essential for protecting red blood cells from oxidative damage. These mutations are inherited and may be exacerbated by environmental triggers that increase oxidative stress.

Risk Factors

• Genetic predisposition (inherited G6PD deficiency)
• Exposure to oxidative stressors (e.g., certain medications, infections, or fava beans)
• Male gender (G6PD deficiency is X-linked and more common in males)

Symptoms

• Fatigue and weakness
• Pale skin or jaundice
• Shortness of breath
• Dark urine (in acute hemolysis)
• Rapid heart rate
• Enlarged spleen (splenomegaly)

Diagnosis

Diagnosis involves blood tests to assess red blood cell count, hemoglobin levels, and reticulocyte count, along with specific enzyme activity assays (e.g., G6PD levels). Additional tests may include a complete blood count (CBC) and a peripheral blood smear to evaluate red blood cell morphology. Family history and exposure to potential triggers are also considered.

Treatment Options

Treatment focuses on avoiding oxidative stressors and managing acute hemolysis. This may include discontinuing triggering medications, treating underlying infections, and providing supportive care such as blood transfusions in severe cases. Folic acid supplementation may be recommended to support red blood cell production.

Prognosis and Follow-Up

With proper management, most individuals with G6PD deficiency have a good prognosis. Acute hemolytic episodes are usually self-limiting, but severe cases may require hospitalization. Long-term follow-up involves monitoring for complications and educating patients on avoiding triggers.

Complications

• Severe anemia requiring transfusion
• Chronic hemolysis leading to gallstones
• Neonatal jaundice (in newborns)
• Kidney failure (in rare severe cases)

Lifestyle & Prevention

• Avoid medications and foods known to trigger hemolysis (e.g., fava beans, certain antibiotics)
• Manage infections promptly to reduce oxidative stress
• Inform healthcare providers about G6PD deficiency before starting new treatments
• Consider genetic counseling for family planning

When to Seek Professional Help

Seek medical attention if you experience symptoms of acute hemolysis, such as dark urine, jaundice, or severe fatigue, especially after exposure to potential triggers. Immediate care is necessary for severe anemia or signs of organ damage.

Tips for Medical Coders

When coding for D55.0, ensure documentation supports the diagnosis of anemia due to G6PD deficiency, including laboratory confirmation of enzyme deficiency or genetic testing. Note any triggering factors (e.g., medication exposure, infection) and specify the type of anemia (hemolytic) to support accurate coding.