🔬🩸*G6PD Deficiency* : *Causes, Symptoms, Diagnosis, and Treatment* ✍ Prepared by: Saeed Mohammed Al-Jaafari | LAB PULSE Channel 🔬 *Introduction* Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic disorder that affects red blood cells, making them more prone to breakdown under specific triggers such as certain foods (like fava beans), medications, or infections. This leads to hemolytic anemia, which can vary in severity depending on the level of enzyme deficiency and exposure to triggers. 📌 *Causes and Genetic Transmission* • G6PD deficiency is inherited via the X chromosome, making it more common in males. Females are typically carriers, who may have a milder form of the condition. • Exposure to certain triggers can induce acute hemolytic episodes even in individuals with partial enzyme deficiency. 📌 *Symptoms* Symptoms usually emerge after exposure to triggering factors and may include: • 🩸 Pale skin and extreme fatigue due to a reduced number of red blood cells. • 🟡 Jaundice (yellowing of the skin and eyes), caused by elevated bilirubin due to hemolysis. • 🟤 Dark-colored urine (tea or cola color), indicating the presence of free hemoglobin or bilirubin. • ❤️ Rapid heartbeat and shortness of breath due to reduced oxygen levels in the blood. • 🤢 Abdominal pain and nausea, which may occur in severe cases. 📌 *Triggers That Induce Hemolysis* • 🍽️ *Foods*: Fava beans, legumes, blackstrap molasses, cranberries. • 💊 *Medications:* Certain antibiotics (e.g., sulfonamides), antimalarial drugs, and high-dose aspirin. • 🦠 *Infections*: Viral or bacterial infections that worsen the condition. • 🧴 *Exposure to Chemicals:* Naphthalene (found in mothballs) can trigger hemolysis. 📌 *Diagnostic Methods* • 🔬 *Quantitative G6PD Test:* The gold standard for accurately measuring enzyme activity. • ⚡ *Qualitative Test:* A rapid screening test to detect G6PD deficiency, though it does not quantify enzyme levels. • 🌟 *Fluorescent Spot Test:* Detects enzyme activity using ultraviolet light. • 🧬 *Genetic Testing:* Identifies mutations responsible for G6PD deficiency. 📊 *Normal Enzyme Levels:* • 👶 Newborns: 10.15 - 14.71 U/g Hb • 👨‍⚕️ Adults: 6.75 - 12.24 U/g Hb • *Note: Reference ranges may vary between laboratories.* 📌 *Factors Affecting Test Accuracy* • 🩸 *Recent Blood Transfusion:* Can result in false normal results, as donor red blood cells replace the affected cells. • 💥 *Testing During a Hemolytic Episode:* Results may be inaccurate due to increased reticulocytes, which contain more enzyme than older, lysed red blood cells. • 🚨 *Incorrect Sample Collection:* Delayed processing or exposure to heat may affect enzyme activity. • 🌡️ *Improper Storage:* High temperatures or freezing can degrade the enzyme, altering results. 📌 *Common Errors During Testing* • ⏳ *Not Waiting After a Hemolytic Crisis:* It’s advisable to wait 2-3 months post-crisis for more accurate results. • 🔄 *Improper Mixing of Samples:* Incorrect mixing in an EDTA tube can result in inaccurate enzyme readings. • ⚠️ *Sample Contamination with Lysed Blood Cells:* This can interfere with the accuracy of quantitative testing. • 🧪 *Using Improperly Calibrated Instruments or Reagents:* This may lead to errors in result interpretation. 📌 *Treatment and Disease Management* There is no cure for G6PD deficiency, but the condition can be effectively managed by: • 🥦 Avoiding known triggers, including specific foods and high-risk medications. • 👨‍⚕️ Regularly monitoring symptoms, especially after introducing new foods or medications. • 💧 Drinking plenty of fluids to help in the clearance of toxins during mild symptoms. • 🏥 Seeking immediate medical attention during a severe hemolytic episode, with potential treatments including blood transfusions or IV fluids. • 💊 Informing healthcare providers about the condition before taking any new medications. 📌 *Alternative Foods to Fava Beans and Legumes* While fava beans are a primary trigger for G6PD deficiency, alternatives rich in proteins and other nutrients can help maintain a healthy diet: • 🍖 *Meat and Fish:* Rich in high-quality proteins. • 🍄 *Mushrooms:* A plant-based protein source. • 🧀 Dairy and Eggs, especially egg whites. • 🥔 *Potatoes:* A protein source with low risk for G6PD-deficient individuals. 📌 *Importance of Awareness in Family and Diet* • Educating family members about the condition is crucial to prevent accidental exposure to triggers. • Avoiding fava beans and other risky foods is essential, and it’s important to consult a healthcare professional before introducing new foods or medications. 🧪 *Sample Collection and Storage:* ✅ *Sample Type:* • Venous blood in EDTA tube (lavender top) • Minimum volume: 2-3 mL • Mix gently by 8-10 inversions ✅ *Storage Conditions:* • Room temperature (18-22°C): Up to 24 hours • Refrigerated (2-8°C): Up to 7 days • Frozen (-20°C to -80°C): Long-term storage (avoid if possible) ✅ *Sample Handling:* • Transport at 2-8°C if not testing immediately • Protect from direct sunlight • Avoid hemolysis during collection 📌 *Quality Control*: • Internal controls with each batch • Participation in external quality assessment • Temperature monitoring of storage conditions • Sample rejection criteria: • Hemolyzed specimens • Incorrect sample volume • Improper storage/transport • Expired collection tubes 📌 *Conclusion* G6PD deficiency is a genetic disorder that can be managed effectively through awareness and avoiding known triggers. Accurate testing requires proper sample handling, appropriate methodology selection, and consideration of factors that might influence results. Regular quality control monitoring ensures reliable results for proper patient care. Regular screening, accurate diagnosis, and proper disease management allow affected individuals to lead normal and healthy lives. 📌 *References* 1. National Institutes of Health (NIH) G6PD Deficiency Information: https://www.ninds.nih.gov/health-information/disorders/glucose-6-phosphate-dehydrogenase-deficiency 2. Mayo Clinic G6PD Deficiency Overview: https://www.mayoclinic.org/diseases-conditions/g6pd-deficiency/symptoms-causes/syc-20351552 3. Centers for Disease Control and Prevention (CDC) G6PD Deficiency: https://www.cdc.gov/malaria/about/biology/g6pd.html 📌 *Follow LAB Pulse Channel for More Information* • *Telegram*: https://t.me/lab_pulse • *Twitter (X)*: https://twitter.com/labpulse25 • *WhatsApp*: https://whatsapp.com/channel/0029Vaydi9IBKfi318dkau32