1. Physiology Department

2. Team Members:- 91-Esraa Raafat Ahmed Ghanem 92-Esraa Reda Hashem Tawfik 93-Esraa samy Farid Abd Elghaffar 94-Esraa Saad Abbas Hamed 95-Esraa Shawky Abdelhak Abolaban 96-Esraa Sobhi Mohamed Abdelaziz 97-Esraa Sabry Mohamed Ahmed Ali 98-Esraa Taher Elhossieny Farag 100-Esraa Ezzat Afify Sharf

3. Intended Learning Outcomes (ILOS): 1-Showing G6PD deficiency case and its history. 2-Overview on the disease (definition,causes,symptoms.diagnosis and treatment). 3-describe the biochemistry and structure of G6PD. 4-review the clinical presentation of G6PD deficiency. 5-summarize the prevention and management.

4. G6PD deficiency Case 21 year old female, east indian..4 day history of nausea and vomiting..Urinary tract infection, treated at walk-in clinic with pyridium and septra for 4 days prior to admission..on exam: jaundice..MH: 1-neonatal jaundice treated with light therapy.2-has eaten fava beans without ill effect..FH:1-father had neonatal jaundice1-maternal aunt had episode of jaundice

5. Laboratory investigations Blood smear:Occasional ‘bitten’ cellls Heinz body prep:positive.

6. ‘Bitten’ cells Heinz bodies

7. ((G6PD assay)) Patient Mar 12< 0.1 (4.6 -13.5 U/G Hb) April 12< 0.1 Family Mother:6.5 Father:0.6

8. It is an x-linked recessive hereditary disease characterized by abnormally low levels of G6DP..G6PD deficiency is the most common human enzyme defect. G6DP causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis..Individuals with the disease may exhibit hemolytic anemia with jaundice in response to a number of causes, most commonly infection or exposure to certain medications or fava beans. Definition of G6PD Difficency Disease

9. Propapility of Disease inheritance

10. Causes of The Disease It occurs following the intake of: 1-fava beans. 2-certain legumes. 3-various drugs such as (Sulphonamides and Aspirin) Fava Beans and these drugs lead to oxidation of the red blood corpuscles walls and hence, hemolysis of RBCs. The risk here is the absence of G6P-dehydrogenase enzyme that converts glutathione  from the oxidized form to the reduced form and so hemolysis occurs. Glutathione (an antioxidant like vitaminE) in its reduced form prevents the hemolysis of erythrocytes by protecting them from oxidation.

11. Symptoms of the Disease: Symptoms of the condition can include: Symptoms of the condition can include: 1-Rapid heart rate. 2-Fast breathing. 3-Urine that is dark and yellow-orange. 4-Spike in body temperature. 5-Yellowing of the skin. 6-Enlargement of spleen.

12. How to Diagnose the disease? The diagnosis is generally suspected when patients from certain ethnic groups developanemia, jaundice and symptoms of hemolysis. Generally, tests will include: Complete blood count and reticulocyte count; in active G6PD deficiency, Heinz bodies can be seen in red blood cells on a blood film. Liver enzymes (to exclude other causes of jaundice). Lactate dehydrogenase (elevated in hemolysis and a marker of hemolytic severity). Haptoglobin (decreased in hemolysis). direct test for G6PD is the "Beutler fluorescent spot test“ . Other possibilities are direct DNA testing and/or sequencing of the G6PD gene.

13. Treatment Of Disease The most effective treatment is the avoidance of substances which can elicit anemia. .you should avoid some types of food and medications. .for the hemolytic crisis, the most effective therapy is blood transfusion. For mild cases of deficiency, the blood transfusion is usually not required. .COX2 inhibitors are safe anti-inflamatory for patient with favism.  .So keep very close to the advice of your physician or pharmacist and follow all the instructions carefully.

14. World distribution of G6PD deficiency

16. The Metabolic Role of G6PD Normal red cell: NADPH usually maintains glutathione 500x higher than unreduced form. In presence of oxidizing agents: Normal red cell PPP stimulated several fold (~ 30x) This is usually done by increasing G6PD production. G6PD deficient cell : PPP operating at near maximal rate Unable to increase PPP rate NADPH and glutathione levels decrease Increased susceptibility to oxidative damage because unable to produce NADPH at normal rate.

18. Favism Acute hemolytic anemia after ingestion of fava beans (broad beans). Sudden onset of acute hemolytic anemia within 24-48 hrs of ingestion. Highest incidence in boys 2-6 yrs. Peak incidence during time of harvest. Not all G6PD deficient patients are sensitive to fava beans.

20. Summary

21. References: 1-www.medicinenet.com. 2-www.medicinenet.com. 3-en.wikipedia.org. 4-www.g6pd.org.