G6PD

Glucose 6 Phosphate Dehydrogenase (G6PD) is a deficiency in an enzyme, which can lead to a form of anemia, known as G6PD anemia, a form of hemolytic anemia. This type of anemia is normocytic and normochromic, therefore it can often be missed on routine bloodwork. Tell-tale signs on blood smears are the presence of Heinz bodies (packages of hemoglobin in the red blood cells) and bite cells.

This disorder is a inherited, X chromosome recessive gene and is more prominent in males than females, and in certain ethnic populations more than others. Boys have X and one Y chromosome, so if the X gene is affected they will have G6PD deficiency. Girls have two X chromosomes and if it affects one X chromosome, she is a carrier (asymptomatic), but if both X chromosomes are affected she will have a G6PD deficiency and could exhibit symptoms.

Symptoms

  1. Difficulty in breathing and/or shortness of breath
  2. Rapid and strong heart beat
  3. Pallor, yellowish or golden skin tone (jaundice)
  4. Tea colored urine
  5. Abdominal and/or back pain

 

During infection these patients produce oxidative substances which produces the hemolytic crisis.

Triggers

This type of anemia is more often seen in acute hemolytic anemia following exposures of triggering factors, such as certain medications, particular foods, chemical exposures, can cause acute hemolysis in these patients.

Medications

Dapsone
Nitrofurantoin
Primaquine
Methyl Blue
Dimercaperol

Chemicals

Napthalene – (used in mothballs and mint flavored Listerine)
Henna dyes
Fava beans
Legumes
Red wine

Tests

Florescent Spot Test is the most reliable test used which detects the presence of NADPH florescence. Another test to detect G6PD deficiency is the Methemoglobin Reduction Test. Once a deficiency is detected, assay tests can determine the G6PD activity and the patients ability to generate NADPH.

Treatment

  1. Removing triggers – avoid certain medications and dietary restrictions
  2. Folate supplementation – type depends on MTHFR status (under methylator or over methylator)
  3. Severe cases – transfusion

 

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