What Your Test Results Mean:

Female carriers typically show no symptoms; however, female carriers have an increased chance to have a child with G6PD deficiency. Consultation with a genetic counselor for a more detailed risk assessment is recommended.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

G6PD is the most common of all clinically significant enzyme defects. The enzyme (glucose-6-phosphate dehydrogenase) deficiency causes the destruction of red blood cells faster than the body can replace them. Certain triggers can lead to the increased destruction of red blood cells. These triggers include certain medications, infections, foods (ex. fava beans), and stress. When a person with G6PD deficiency is exposed to these triggers, they can experience hemolytic anemia. Symptoms of hemolytic anemia include paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, enlarged spleen, fatigue, shortness of breath, and rapid heart rate.

Prognosis:

Prognosis is generally favorable. Individuals who experience a hemolytic episode usually fully recover with adequate treatment. With proper management, individuals with G6PD deficiency may never show symptoms and lead a normal life.

Treatment:

Management of the disease is generally focused on avoiding triggers such as infection, certain drugs, and foods that induce hemolytic anemia. In severe episodes of hemolytic anemia, individuals may require blood transfusions.