Summary about Disease
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency) is a genetic enzyme deficiency that affects red blood cells. Individuals with G6PD deficiency don't have enough of the G6PD enzyme, which helps red blood cells function properly and protects them from damage. This can lead to hemolytic anemia, where red blood cells are destroyed faster than they can be made. Many individuals with G6PD deficiency are asymptomatic until exposed to specific triggers.
Symptoms
Many people with G6PD deficiency have no symptoms. When symptoms do occur, they are usually related to hemolytic anemia and can include:
Jaundice (yellowing of the skin and eyes)
Dark urine
Fatigue
Dizziness
Shortness of breath
Rapid heart rate
Splenomegaly (enlarged spleen)
Causes
G6PD deficiency is caused by a mutation in the G6PD gene, which is located on the X chromosome. It is inherited in an X-linked recessive pattern. This means that males, who have only one X chromosome, are more likely to be affected than females, who have two. Females can be carriers of the gene without showing symptoms. The deficiency makes red blood cells vulnerable to oxidative stress.
Medicine Used
There is no specific medicine to cure G6PD deficiency. Treatment focuses on managing symptoms and avoiding triggers.
Blood Transfusions: Used in severe cases of hemolytic anemia to replace red blood cells.
Supplemental Oxygen: May be needed if there is severe anemia causing shortness of breath.
Medications to avoid: It is important to avoid certain medications, foods, and substances that can trigger hemolysis. These include:
Certain antibiotics (e.g., sulfa drugs, nitrofurantoin)
Antimalarial drugs (e.g., primaquine, chloroquine)
Certain pain relievers (e.g., aspirin)
Fava beans
Is Communicable
No, G6PD deficiency is not communicable. It is a genetic condition and cannot be spread from person to person.
Precautions
The most important precaution is to avoid triggers that can cause hemolysis. This includes:
Avoiding certain medications (as listed above)
Avoiding fava beans and certain other foods
Avoiding exposure to naphthalene (mothballs)
Being aware of potential triggers during infections or illnesses.
Informing healthcare providers about the G6PD deficiency before receiving any medication or treatment.
How long does an outbreak last?
The duration of a hemolytic episode (outbreak) can vary depending on the severity of the trigger and the individual's overall health. Generally, a hemolytic crisis can last from a few days to a couple of weeks if the trigger is removed. Recovery involves the body producing new red blood cells to replace those that were destroyed.
How is it diagnosed?
G6PD deficiency is diagnosed through blood tests that measure the level of G6PD enzyme activity in red blood cells. Common tests include:
G6PD enzyme assay: This test directly measures the amount of G6PD enzyme in the blood.
Complete blood count (CBC): This can show signs of anemia.
Reticulocyte count: This measures the number of new red blood cells being produced.
Bilirubin level: Elevated levels can indicate red blood cell breakdown.
Peripheral blood smear: Microscopic examination of blood can reveal damaged red blood cells.
Genetic testing: In some cases, genetic testing may be used to confirm the diagnosis.
Timeline of Symptoms
The onset and progression of symptoms can vary. A typical timeline might look like this:
Exposure to trigger: Individual is exposed to a trigger such as a medication, food, or infection.
Within 24-48 hours: Initial symptoms may appear, such as dark urine and fatigue.
2-4 days: Jaundice may develop, and other symptoms of anemia such as shortness of breath and rapid heart rate may become noticeable.
1-2 weeks: If the trigger is removed and supportive care is provided, symptoms typically begin to improve as the body produces new red blood cells.
Several weeks: Full recovery may take several weeks, depending on the severity of the hemolytic episode.
Important Considerations
Newborn Screening: Many countries include G6PD deficiency in newborn screening programs.
Lifelong Condition: G6PD deficiency is a lifelong condition that requires ongoing awareness and management.
Genetic Counseling: Genetic counseling is recommended for families with a history of G6PD deficiency.
Emergency Preparedness: Individuals with G6PD deficiency should carry a medical alert card or bracelet indicating their condition.
Infections: Infections can also trigger hemolysis, so prompt treatment of infections is important.
Fava Beans: Consumption of fava beans can be dangerous for individuals with G6PD deficiency, causing a rapid destruction of red blood cells.