Write a short note on G6PD deficiency.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited genetic disorder characterized by a deficiency of the enzyme G6PD, which plays a crucial role in protecting red blood cells from oxidative damage. G6PD deficiency is the most common enzyme deficiency worldwide, affecting an estimated 400 million people, particularly in regions where malaria is or was endemic.

Individuals with G6PD deficiency experience a range of symptoms, from mild to severe, depending on the extent of enzyme deficiency and exposure to triggering factors. Hemolytic episodes, characterized by the destruction of red blood cells (hemolysis), are the hallmark of G6PD deficiency and can be triggered by various factors, including:

1. Certain Foods or Drugs: Consumption of certain foods, medications, or chemicals, such as fava beans (favism), antimalarial drugs (e.g., primaquine), sulfonamide antibiotics, and naphthalene (found in mothballs), can trigger hemolytic reactions in individuals with G6PD deficiency.

2. Infections: Infections, particularly bacterial and viral infections, can precipitate hemolysis in individuals with G6PD deficiency. Malaria infection is of particular concern, as it can exacerbate hemolytic episodes and lead to severe complications.

3. Chemical Exposures: Exposure to certain chemicals, such as naphthalene (found in mothballs), can trigger hemolysis in individuals with G6PD deficiency. Occupational or environmental exposures to these chemicals should be avoided to prevent hemolytic reactions.

Symptoms of hemolysis in G6PD-deficient individuals may include fatigue, pallor, jaundice (yellowing of the skin and eyes), dark-colored urine (due to the presence of hemoglobin breakdown products), and in severe cases, anemia, hemoglobinuria (presence of hemoglobin in the urine), and even life-threatening complications such as acute kidney injury and hemolytic crisis.

Diagnosis of G6PD deficiency is typically confirmed through laboratory tests, such as enzyme activity assays or genetic testing. Management of G6PD deficiency involves avoiding triggers that can precipitate hemolytic episodes, such as certain medications, foods, or chemical exposures. Treatment during acute hemolytic episodes may include supportive care, blood transfusions, and avoiding further exposure to triggers.

In conclusion, G6PD deficiency is a common genetic disorder characterized by a deficiency of the enzyme G6PD, leading to susceptibility to hemolytic reactions triggered by certain foods, drugs, infections, and chemical exposures. Awareness of the condition and avoidance of triggers are essential for managing the health of individuals with G6PD deficiency and preventing potentially life-threatening complications.