G6pd deficiency

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is a genetic disorder that primarily affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The condition occurs due to mutations in the G6PD gene, which leads to a reduction in the activity of the glucose-6-phosphate dehydrogenase enzyme. This enzyme plays a critical role in the hexose monophosphate shunt, a metabolic pathway that helps protect red blood cells from damage caused by oxidative stress.

Causes

G6PD deficiency is caused by mutations in the G6PD gene located on the X chromosome (X-linked recessive inheritance). This gene provides instructions for making the glucose-6-phosphate dehydrogenase enzyme. Mutations can lead to a deficiency of this enzyme, making red blood cells more vulnerable to breaking apart under certain stress conditions. This process is known as hemolysis.

Symptoms

The primary symptom of G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. Symptoms of hemolytic anemia may include fatigue, shortness of breath, jaundice, and dark urine. The severity of symptoms can vary widely among affected individuals, from very mild to life-threatening. Hemolytic episodes are often triggered by infections, certain foods (such as fava beans), drugs, or stress.

Diagnosis

Diagnosis of G6PD deficiency is typically made through a blood test that measures the level of G6PD enzyme activity. Genetic testing may also be used to identify specific mutations in the G6PD gene.

Treatment

There is no cure for G6PD deficiency, but it can be managed by avoiding triggers that can lead to hemolysis. This includes avoiding certain medications and foods known to cause oxidative stress in individuals with the condition. In cases of acute hemolytic anemia, treatment may involve hospitalization, oxygen therapy, and transfusions of red blood cells.

Epidemiology

G6PD deficiency is the most common enzyme deficiency worldwide, affecting more than 400 million people. It is most prevalent in areas where malaria is or was common, suggesting a protective role against malaria for individuals with the condition.

See also

• Hemolytic anemia
• Red blood cell
• X-linked recessive inheritance
• Malaria