D55.0

Clinical Causes: Genetic inheritance of G6PD deficiency, primarily passed down from a parent Exposure to certain medications, such as primaquine, sulfonamides, and some antibiotics Ingestion of certain foods, especially fava beans (favism) Infections that increase oxidative stress in the body Exposure to environmental toxins or chemicals

Key Symptoms: Sudden onset of fatigue and weakness Paleness of the skin Rapid heartbeat or shortness of breath Dark-colored urine due to hemoglobin breakdown jaundice (yellowing of the skin and eyes) Fever and abdominal pain in some cases Headaches and dizziness

Diagnosis Path: Diagnosis usually involves blood tests that measure G6PD enzyme activity, especially during a hemolytic episode. Doctors may also perform a complete blood count (CBC) to assess red blood cell levels, and observe the presence of hemolysis markers such as elevated bilirubin. A detailed medical history focusing on medication intake, dietary habits, and recent infections can assist in identifying triggers. In some cases, genetic testing is used to confirm G6PD deficiency.

Treatment Protocols: Management of G6PD deficiency-related anemia primarily focuses on avoiding known triggers. During episodes of hemolysis, supportive treatments such as blood transfusions may be necessary to restore red blood cells. Patients are advised to avoid medications known to trigger hemolysis, steer clear of fava beans, and maintain good infection control practices. In cases where severe anemia develops, hospitalization and close monitoring are essential. Educating patients about recognizing early symptoms and avoiding risk factors helps prevent future episodes.