What are the pathology of G6PD?
G6PD deficiency is a common, X-linked reduction in the activity of glucose-6-phosphate dehydrogenase (G6PD), which makes erythrocytes susceptible to oxidative stress and usually causes acute hemolytic anemia in response to a “trigger.” G6PD enzyme deficiency is the most common enzyme defect.
Why does G6PD cause hemolytic anemia?
In people with G6PD deficiency, either the red blood cells do not make enough G6PD or what they do make doesn’t work as it should. Without enough G6PD to protect them, the red blood cells break apart. This is called hemolysis (hih-MOL-ih-sis).
Why does G6PD deficiency cause intravascular hemolysis?
Therefore, red blood cells depend on G6PD activity to generate NADPH for protection. Thus, red blood cells are more susceptible to oxidative stresses than other cells. In persons with G6PD deficiency, oxidative stresses can denature hemoglobin and cause intravascular hemolysis.
What are the effects of G6PD deficiency?
This type of anemia leads to paleness, yellowing of the skin and whites of the eyes ( jaundice ), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Some patients have a history of chronic hemolytic anemia. Skin ulcers are uncommon but may occur in people with severe G6PD deficiency.
How is G6PD deficiency diagnosed?
Your doctor can diagnose G6PD deficiency by performing a simple blood test to check G6PD enzyme levels. Other diagnostic tests that may be done include a complete blood count, serum hemoglobin test, and a reticulocyte count. All these tests give information about the red blood cells in the body.
Does G6PD deficiency cause hemolytic anemia?
G6PD deficiency is an inherited condition. It is when the body doesn’t have enough of an enzyme called G6PD (glucose-6-phosphate dehydrogenase). This enzyme helps red blood cells work correctly. A lack of this enzyme can cause hemolytic anemia.
Why is G6PD test done?
The G6PD test is often used to determine the causes of hemolytic anemia. G6PD protects oxygen-rich RBCs from chemicals called reactive oxygen species (ROS).
Is G6PD deficiency intravascular or extravascular hemolysis?
Examples of intravascular hemolysis include enzyme defects such as glucose-6-phosphate dehydrogenase (G6PD) deficiency or certain immune-mediated processes. Extravascular hemolysis usually results from more subtle RBC destruction, typically with chronic splenic enlargement and jaundice.
What infection triggers G6PD?
It has also been demonstrated that infections caused by certain viruses, such as hepatitis viruses (A, B, and E) and cytomegalovirus, were associated with hemolytic anemia in patients with G6PD deficiency [8,9].
What foods to avoid if you have G6PD deficiency?
Fava beans (also known as broad beans) and possibly ALL legumes (see note about favism below.
What is the prognosis for G6PD deficiency?
In these cases, most people can recover from an episode on their own. Once G6PD deficiency has progressed to hemolytic anemia, however, more aggressive treatment may be required. This sometimes includes oxygen therapy and a blood transfusion to replenish oxygen and red blood cell levels.
Who should be tested for G6PD deficiency?
Malaria Medications. Because of this possible complication, it is recommended that people be tested for G6PD deficiency prior to taking primaquine. This includes breastfeeding infants whose mothers take primaquine. Fortunately, other medications used to treat malaria are tolerated by most people with G6PD deficiency.
How does G6PD deficiency affect the body?
The defective gene that causes G6PD deficiency means that the body doesn’t have enough of a particular enzyme that protects red blood cells from disintegrating. Because of this, red blood cells in someone with G6PD deficiency tend to break down quicker than those in other people.