G6PD DEFICIENCY
G6PD deficiency is a genetic disorder that affects the production of an enzyme called glucose-6-phosphate dehydrogenase (G6PD). This enzyme plays a vital role in protecting red blood cells from damage caused by certain substances and processes, such as oxidative stress.
Individuals with G6PD deficiency have lower levels of G6PD enzyme activity, which makes their red blood cells more susceptible to damage. This can lead to a condition called hemolytic anemia, in which red blood cells break down more quickly than they can be replaced.
G6PD deficiency is an X-linked genetic disorder, which means that it primarily affects males. Females can also be affected, but the severity of the condition is usually milder. The condition is most common in people of African, Mediterranean, or Middle Eastern descent, although it can occur in people from any ethnic background.
Symptoms of G6PD deficiency vary depending on the severity of the condition and the individual's exposure to triggers. Triggers can include infections, certain medications (such as antimalarials, sulfa drugs, and some antibiotics), fava beans, and other stressors that cause oxidative damage to red blood cells.
Mild cases of G6PD deficiency may not cause any symptoms, while more severe cases can cause episodes of hemolytic anemia. Symptoms of hemolytic anemia can include jaundice, fatigue, shortness of breath, and dark urine. In severe cases, hemolytic anemia can be life-threatening.
There is no cure for G6PD deficiency, but the condition can be managed by avoiding triggers and taking steps to prevent hemolytic anemia. Treatment for hemolytic anemia may include blood transfusions, medications to manage symptoms, and measures to prevent complications.
If you suspect that you or a loved one may have G6PD deficiency, it is important to speak with a healthcare provider. Testing can be done to confirm the diagnosis and to develop a treatment plan. With proper management, individuals with G6PD deficiency can lead healthy and productive lives.
