G6PD deficiency

G6PD deficiency is an X-linked genetic condition that affects the activity of the enzyme glucose-6-phosphate dehydrogenase. This enzyme plays an important role in protecting red blood cells, and changes in its activity can lead to health problems. Most people with G6PD deficiency do not experience symptoms throughout their lives. However, some individuals are at risk for severe neonatal jaundice and episodes of acute hemolytic anemia when exposed to certain triggers such as specific medications, chemicals, infections, or the ingestion of fava beans. The condition is caused by changes in the G6PD gene that result in moderately to severely decreased enzyme activity.

People with G6PD deficiency are usually asymptomatic. In cases where symptoms do occur, severe neonatal jaundice may be seen in newborns. Additionally, individuals may experience episodes of acute hemolytic anemia when their red blood cells break down in response to certain triggers such as medications, infections, chemicals, or eating fava beans.

G6PD deficiency is caused by alterations in the G6PD gene. Because it is an X-linked condition, the gene changes are passed down through families and can result in reduced activity of the glucose-6-phosphate dehydrogenase enzyme. This diminished enzyme activity leaves red blood cells more vulnerable under specific stress conditions.

Information about treatment is currently limited for this condition. Management typically involves avoiding known triggers that may cause a hemolytic episode.

Many people with G6PD deficiency remain asymptomatic and live normal lives. However, those who are at risk should be mindful of potential triggers, as they can lead to serious complications such as severe neonatal jaundice or acute hemolytic anemia during stress events.

Information about research is currently limited for this condition.