About g6pd deficiency
What is g6pd deficiency?
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency (G6PDD) is an inherited, sex-linked, metabolic disorder characterized by an enzyme defect that leads to the breakdown of red blood cells (hemolysis) upon exposure to stresses associated with some bacterial infections or certain drugs. A deficiency of this enzyme may result in the premature destruction of red blood cells (an acute hemolytic anemia or a chronic spherocytic type) when an affected individual is exposed to certain medications or chemicals, experiences certain viral or bacterial infections, and/or inhales the pollen of, or consumes, fava beans (favism).
Glucose- 6-Phosphate Dehydrogenase Deficiency is inherited as an X-linked genetic trait. It is a common inborn error of metabolism among humans. More than 300 variants of the disorder have been identified, resulting from mutations of the Glucose-6-Phosphate Dehydrogenase gene. The severity of symptoms associated with G6PD Deficiency may vary greatly among affected individuals, depending upon the specific form of the disorder that is present.
Neonatal G6PDD is particularly dangerous to an infant. It is manageable if caught early, and screening for the disorder is common.
The role of the enzyme G6PD is to maintain the pathway to generate a chemical called glutathione, which in a particular form is an antioxidant. The antioxidant is necessary to protect the cell's hemoglobin and its cell wall (red cell membrane). If the level of antioxidant is too low, then the cell's hemoglobin will not bind oxygen (its main purpose); the cell wall will break allowing the cell contents, including the modified hemoglobin, to spill out.
What are the symptoms for g6pd deficiency?
Symptoms of G6PD deficiency can include:
- rapid heart rate
- shortness of breath
- urine that is dark or yellow-orange
- jaundice, or yellowing of the skin and whites of the eyes
What are the causes for g6pd deficiency?
G6PD deficiency is a genetic condition that is passed along from one or both parents to their child. The defective gene that causes this deficiency is on the X chromosome, which is one of the two sex chromosomes. Men have only one X chromosome, while women have two X chromosomes. In males, one altered copy of the gene is enough to cause G6PD deficiency.
Females are usually affected if there is a mutation present in both copies of the gene, though in some cases, females with one G6PD mutation can also experience symptoms. Since females have two X chromosomes, males are affected by G6PD deficiency much more frequently than females.
What are the treatments for g6pd deficiency?
Treatment for G6PD deficiency consists of removing the trigger that is causing symptoms.
If the condition was triggered by an infection, then the underlying infection is treated accordingly. Any current medications that may be destroying red blood cells are also discontinued. 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.
You will need to stay in the hospital while receiving these treatments, as close monitoring of severe hemolytic anemia is critical for ensuring a full recovery without complications.
What are the risk factors for g6pd deficiency?
You may have a higher risk of having G6PD deficiency if you:
- are male
- are African-American
- are of Middle Eastern descent
- have a family history of the condition
Having one or more of these risk factors doesn’t necessarily mean that you will have G6PD deficiency. Talk with your doctor if you’re concerned about your risk for the condition.
Is there a cure/medications for g6pd deficiency?
The majority of people with glucose-6-phosphate dehydrogenase (G6PD) deficiency do not require treatment. They should, however, be told to avoid drugs and things that cause oxidant stress.
- Patients should avoid broad beans as well (i.e., fava beans).
- As long as certain foods and drugs are avoided, most children with G6PD deficiency lead completely normal lives.