Glucose-6-Phosphate-Dehydrogenase Deficiency

Alternate Names : G6PD Deficiency

How is the disease diagnosed?

The diagnosis of G6PD deficiency is suspected when jaundice and anemia occur. Blood tests, including a complete blood count or CBC and a CHEM-7, are done to show that red blood cells have died in large numbers.

A specific diagnosis can be made by measuring of the amount of G6PD enzyme activity in red blood cells. This blood test can tell whether the amount of G6PD is abnormally low. In some cases, a blood test called protein electrophoresis may need to be done to confirm the diagnosis.