Name of the Procedure:

Glucose-6-phosphate dehydrogenase (G6PD); quantitative

Summary

The Glucose-6-phosphate dehydrogenase (G6PD) quantitative test measures the activity level of the G6PD enzyme in red blood cells. Deficiency in this enzyme can lead to the destruction of red blood cells (hemolysis).

Purpose

This procedure is used to diagnose G6PD deficiency, a genetic disorder that can cause episodes of anemia under certain conditions such as infections or exposure to certain medications. The goal is to identify individuals with low levels of G6PD enzyme to manage and prevent hemolytic episodes effectively.

Indications

• Symptoms like fatigue, paleness, jaundice (yellowing of the skin)
• Unexplained hemolytic anemia
• Family history of G6PD deficiency
• Newborn jaundice
• Before giving medications known to trigger hemolysis in G6PD-deficient individuals

Preparation

• No special preparation, such as fasting, is typically required.
• Inform the healthcare provider about any medications or supplements being taken.

Procedure Description

1. Blood Sample Collection: A small sample of blood is drawn from a vein, usually in the arm.

2. Analysis: The sample is analyzed in a laboratory to measure the activity of the G6PD enzyme.

   Tools Used:

   • Standard phlebotomy equipment (needles, vials)
   • Laboratory reagents and instruments to measure enzyme activity

Anesthesia/Sedation: Not applicable.

Duration

The blood draw itself typically takes about 5-10 minutes. Lab analysis may take several hours to a few days.

Setting

• Outpatient clinic
• Hospital laboratory
• Doctor's office

Personnel

• Phlebotomist or nurse to draw blood
• Laboratory technicians and pathologists to analyze the sample

Risks and Complications

• Minor risks associated with blood draw: bruising, bleeding, infection
• Rarely, fainting or dizziness during the blood draw

Benefits

• Accurate diagnosis of G6PD deficiency, helping prevent hemolytic episodes by avoiding triggers.
• Quick and minimally invasive procedure.
• Crucial for newborns and individuals with unexplained hemolytic anemia.

Recovery

• Minimal recovery time; patients can typically resume normal activities immediately.
• Follow-up appointment to discuss results and management plan if deficiency is detected.

Alternatives

• Genetic testing for known G6PD mutations.
• Qualitative tests (screening tests) which may not be as precise but can provide quick results.

Patient Experience

• Mild discomfort at the blood draw site.
• Minimal invasiveness with a straightforward blood test.
• Usually pain-free post-procedure with no special care required.