G6PDpuutosilla

G6PDpuutosilla refers to a genetic condition characterized by a deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD). This enzyme is crucial for protecting red blood cells from damage caused by oxidative stress. When G6PD levels are low, red blood cells are more vulnerable to destruction, particularly when exposed to certain triggers.

The deficiency is inherited in an X-linked recessive pattern, meaning it primarily affects males. Females can be carriers but usually do not exhibit symptoms. The severity of G6PD deficiency can vary widely, with some individuals experiencing no noticeable effects while others are prone to hemolytic anemia.

Hemolytic anemia occurs when red blood cells are prematurely destroyed. Triggers for this destruction can include certain medications (such as some antimalarials and antibiotics), fava beans, and infections. Symptoms of a hemolytic episode can include fatigue, jaundice (yellowing of the skin and eyes), dark urine, and shortness of breath. In severe cases, it can lead to kidney failure or other serious complications.

Diagnosis is typically made through blood tests that measure G6PD enzyme activity. Genetic testing can also confirm the diagnosis and identify specific mutations. Management focuses on avoiding known triggers and treating acute hemolytic episodes with supportive care, which may include blood transfusions. There is no cure for G6PD deficiency, but with proper management and avoidance of triggers, individuals can lead healthy lives.