1. overviw Red cell enzyme Red cell enzyme Glucose-6-phosphate dehydrogenase deficiency Glucose-6-phosphate dehydrogenase deficiency Causes: Causes: Symptoms Symptoms Laboratory diagnosisLaboratory diagnosis How do you treat ItHow do you treat It Risks Risks

2. Red Cell Enzyme Glucose-6-phosphate dehydrogenase (G6PD) is a type of protein, called an enzyme, that helps red blood cells work properly Glucose-6-phosphate dehydrogenase (G6PD) is a type of protein, called an enzyme, that helps red blood cells work properlyenzyme

3. Glucose Glucose-6-P F--6--P Anaerobic glycolysis G6PD Aerobic metabolism Detoxification of metabolites of oxidative stress Elimination of methemoglobin

4. Glucose-6-phosphate dehydrogenase deficiency Glucose-6-phosphate dehydrogenase (G-6- PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection Glucose-6-phosphate dehydrogenase (G-6- PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection Too little G6PD leads to the destruction of red blood cells. This process is called hemolysis. When this process is actively occurring, it is called a hemolytic episode Too little G6PD leads to the destruction of red blood cells. This process is called hemolysis. When this process is actively occurring, it is called a hemolytic episode

5. Glucose-6-phosphate dehydrogenase deficiency Low G6PD activity results in low levels of NADPH and reduced glutathione, which are required to protect hemoglobin from oxidative damage Low G6PD activity results in low levels of NADPH and reduced glutathione, which are required to protect hemoglobin from oxidative damage

6. In the absence of adequate reducing ability (provided by G6PD), oxidizing agents convert hemoglobin to methemoglobin, then denature it, causing it to precipitate as Heinz bodies methemoglobin, In the absence of adequate reducing ability (provided by G6PD), oxidizing agents convert hemoglobin to methemoglobin, then denature it, causing it to precipitate as Heinz bodies methemoglobin,

7. Alternative NamesAlternative Names : G-6-PD deficiency; Hemolytic anemia due to G6PD deficiency G-6-PD deficiency; Hemolytic anemia due to G6PD deficiency

8. Causes:Causes: Red blood cell destruction can be triggered by infections, severe stress, certain foods (such as fava beans), and certain drugsincluding: Red blood cell destruction can be triggered by infections, severe stress, certain foods (such as fava beans), and certain drugs, including: Antimalarial drugs Antimalarial drugs Aspirin Aspirin Nitrofurantoin Nitrofurantoin Quinidine Quinidine Quinine Quinine Sulfa drugs Sulfa drugs

9. In the United States, G6PD deficiency is more common among blacks than whites. Men are more likely to have this disorder than women. In the United States, G6PD deficiency is more common among blacks than whites. Men are more likely to have this disorder than women. You are more likely to develop this condition if you: You are more likely to develop this condition if you: Are African American Are African American Are of Middle Eastern decent, particularly Kurdish or Sephardic Jewish Are of Middle Eastern decent, particularly Kurdish or Sephardic Jewish Are male Are male Have a family history of the deficiency Have a family history of the deficiency

10. You are more likely to develop this condition if you: You are more likely to develop this condition if you: Are African American Are African American Are of Middle Eastern decent, particularly Kurdish or Sephardic Jewish Are of Middle Eastern decent, particularly Kurdish or Sephardic Jewish Are male Are male Have a family history of the deficiency Have a family history of the deficiency

11. Symptoms Persons with this condition do not display any signs of the disease until their red blood cells are exposed to certain chemicals in food or medicine, or to stress. Persons with this condition do not display any signs of the disease until their red blood cells are exposed to certain chemicals in food or medicine, or to stress. Symptoms are more common in men and may include: Symptoms are more common in men and may include: Dark urine Dark urine Enlarged spleen Enlarged spleen Fatigue Fatigue Pallor Pallor Rapid heart rate Rapid heart rate Shortness of breath Shortness of breath Yellow skin color (jaundice Yellow skin color (jaundice

12. Laboratory diagnosis CBCCBC retic profileretic profile urinalysisurinalysis LDH/haptoglobinLDH/haptoglobin fractionated bilirubinfractionated bilirubin blood smear with stains for Heinz bodiesblood smear with stains for Heinz bodies G6PD fluroescent spot testG6PD fluroescent spot test o Detects deficient production of NADPH from NADP. In this test NADPH is fluorescent and its absence (due to G6PD deficiency) results in lack of fluorescence. G6PD spectrophotometry to detect level of activityG6PD spectrophotometry to detect level of activity genetic test for variantsgenetic test for variants

13. How do you treat it? avoid offending medicationsavoid offending medications supportive caresupportive care hydration to protect against renal failurehydration to protect against renal failure transfusions, folic acidtransfusions, folic acid splenectomy and vitamin E (anti-oxidant) have been suggested but not been proven effectivesplenectomy and vitamin E (anti-oxidant) have been suggested but not been proven effective ***because hemolysis is usually mild, drugs may be given if there is important indication ***because hemolysis is usually mild, drugs may be given if there is important indication

14. Risks Veins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others. Veins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others. Other risks associated with having blood drawn are slight but may include: Other risks associated with having blood drawn are slight but may include: Excessive bleeding Excessive bleeding Fainting or feeling light-headed Fainting or feeling light-headed Hematoma (blood accumulating under the skin) Hematoma (blood accumulating under the skin) Infection (a slight risk any time the skin is broken) Infection (a slight risk any time the skin is broken)

15. References www.med.unc.edu www.cumc.columbia.edu www.nlm.nih.gov