Glucosephosphate dehydrogenase deficiencies (G6PD deficiencies) are a group of genetic disorders that affect the enzyme glucose-6-phosphate dehydrogenase (G6PD) in the body. This enzyme plays a crucial role in red blood cells, aiding in the conversion of glucose-6-phosphate to 6-phosphogluconolactone, which is necessary for the production of the molecule NADPH (nicotinamide adenine dinucleotide phosphate).
G6PD deficiencies result from alterations in the G6PD gene, leading to reduced levels or a malfunctioning form of the G6PD enzyme. This deficiency affects the body's ability to handle oxidative stress and maintain red blood cell health. In individuals with this deficiency, certain triggers such as certain foods, infections, or certain medications can cause the red blood cells to become damaged and break down prematurely, leading to a condition called hemolytic anemia.
The severity of symptoms may vary depending on the specific mutation in the G6PD gene and the amount of enzyme produced. Some individuals may not experience any symptoms, while others may have intermittent episodes of anemia during times of stress or exposure to certain triggers. Symptoms can include fatigue, pale skin, rapid heart rate, jaundice (yellowing of the skin and eyes), and dark urine.
Diagnosis of G6PD deficiencies typically involves blood tests to measure G6PD enzyme levels or to identify any mutations in the G6PD gene. Treatment primarily involves avoiding triggers that can cause a hemolytic episode, such as certain medications or foods. In severe cases, blood transfusion may be necessary. Overall, with proper management, individuals with G6PD deficiencies can lead normal lives.
