About Glucose-6-Phosphate Dehydrogenase Deficiency

What is Glucose-6-Phosphate Dehydrogenase Deficiency?

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited disorder that affects red blood cells. People with this condition have an enzyme deficiency that can lead to the destruction of red blood cells (hemolysis) when they are exposed to certain triggers, such as certain medications, infections, or foods. Symptoms of G6PD deficiency can include jaundice, anemia, fatigue, and dark urine. Treatment typically involves avoiding triggers and taking medications to reduce symptoms.

What are the symptoms of Glucose-6-Phosphate Dehydrogenase Deficiency?

The most common symptoms of Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency) are:

-Anemia (low red blood cell count)
-Jaundice (yellowing of the skin and eyes)
-Dark urine
-Fatigue
-Shortness of breath
-Abdominal pain
-Nausea
-Vomiting
-Fever
-Enlarged spleen
-Enlarged liver
-Rash
-Headache
-Blurred vision
-Confusion
-Seizures

What are the causes of Glucose-6-Phosphate Dehydrogenase Deficiency?

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition caused by mutations in the G6PD gene. These mutations lead to a decrease in the activity of the G6PD enzyme, which is responsible for helping red blood cells (RBCs) to function normally. G6PD deficiency is the most common enzyme deficiency in humans and is found in all ethnic groups. It is most common in people of African, Mediterranean, and Southeast Asian descent.

What are the treatments for Glucose-6-Phosphate Dehydrogenase Deficiency?

1. Avoiding certain medications: People with G6PD deficiency should avoid certain medications, such as sulfonamides, antimalarials, and certain pain relievers, as they can trigger a hemolytic crisis.

2. Treating infections: People with G6PD deficiency should be treated promptly for any infections, as they can worsen the condition.

3. Blood transfusions: In some cases, a blood transfusion may be necessary to replace lost red blood cells.

4. Diet modifications: Eating a diet low in fava beans and other foods that contain high levels of oxidants can help reduce the risk of a hemolytic crisis.

5. Supplements: Taking supplements, such as vitamin C and folic acid, may help reduce the risk of a hemolytic crisis.

What are the risk factors for Glucose-6-Phosphate Dehydrogenase Deficiency?

1. Family history of G6PD deficiency
2. Being male
3. Being of African, Mediterranean, or Southeast Asian descent
4. Certain medications, such as antimalarial drugs, sulfonamides, and certain antibiotics
5. Exposure to certain chemicals, such as naphthalene (found in mothballs) and certain food additives
6. Viral infections, such as malaria or hepatitis
7. Certain foods, such as fava beans

Is there a cure/medications for Glucose-6-Phosphate Dehydrogenase Deficiency?

Yes, there are treatments available for Glucose-6-Phosphate Dehydrogenase Deficiency. Treatment typically involves avoiding certain medications and foods that can trigger a G6PD deficiency-related episode. Medications such as anti-malarial drugs, sulfa drugs, and certain antibiotics should be avoided. Additionally, foods such as fava beans, legumes, and certain spices should be avoided. In some cases, a doctor may prescribe medications to help manage symptoms.