Physiology Department

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

I NTENDED L EARNING O UTCOMES (ILOS): 1-Showing G6PD deficiency case and its history. 2-Overview on the disease (definition,causes,symptoms.diag nosis and treatment). 3-describe the biochemistry and structure of G6PD. 4-review the clinical presentation of G6PD deficiency. 5-summarize the prevention and management.

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 jaundice 1-maternal aunt had episode of jaundice G6PD deficiency Case

Laboratory investigations Blood smear:Occasional ‘bitten’ cellls Heinz body prep:positive. DateHbBilirubin 12-Mar Mar Mar Mar83 16-Mar Apr Apr129

‘Bitten’ cells Heinz bodies

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

Definition of G6PD Difficency Disease

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.

The diagnosis is generally suspected when patients from certain ethnic groups develop anemia, jaundice and symptoms of hemolysis.anemiajaundicehemolysis  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. Complete blood countreticulocyteHeinz bodiesred blood cellsblood film Liver enzymes (to exclude other causes of jaundice). Liver enzymesjaundice Lactate dehydrogenase (elevated in hemolysis and a marker of hemolytic severity). Lactate dehydrogenase Haptoglobin (decreased in hemolysis). Haptoglobin direct test for G6PD is the "Beutler fluorescent spot test“.Beutler fluorescent spot test Other possibilities are direct DNA testing and/or sequencing of the G6PD gene.

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.

World distribution of G6PD deficiency

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.

Favism 1)Acute hemolytic anemia after ingestion of fava beans (broad beans). 2)Sudden onset of acute hemolytic anemia within hrs of ingestion. 3)Highest incidence in boys 2-6 yrs. 4)Peak incidence during time of harvest. 5)Not all G6PD deficient patients are sensitive to fava beans.

S UMMARY