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practical points for G6PD Deficiency , Favism
This document provides information on G6PD deficiency and favism. It describes a case of a 3-year old boy presenting with pallor, red urine, and abdominal pain, which are signs of hemolytic anemia. It then discusses the characteristics of hemolytic anemia and explains that G6PD deficiency is a genetic disorder where individuals are at risk of hemolytic anemia when consuming fava beans or certain drugs due to inadequate NADPH production and antioxidant effects in red blood cells. The document concludes with treatment recommendations of blood transfusions and avoiding triggers like fava beans, certain medications, infections, and chemicals for people with G6PD deficiency.
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Overview of G6PD deficiency and its significance for clinical pharmacy students, presented by Prof. Dr. Hussein Abdeldayem.
A 3-year-old boy with anemia and red urine, highlighting dietary history including falafel as a possible trigger.
Characteristics of hemolytic anemia include pallor, increased reticulocyte count, and hyperbilirubinemia.
G6PD deficiency is X-linked; variants affect populations differently. It's crucial for understanding patient risks.
Overview of metabolic pathways and the role of G6PD in oxidative stress and red blood cell function.
Treatment involves hospitalization and packed RBC transfusion; emphasizes the need for G6PD enzyme assays.
Foods, drugs, and chemicals to avoid include fava beans and certain medications, stressing their dangers.
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practical points for G6PD Deficiency , Favism
- 1. G6PD DEFICIENCY FAVISM FOR CLINICLPHARMACY STUDENTS BY PROF DR HUSSEIN ABDELDAYEM PROFESSOR OF PEDIATRICS ALEX UNIVERSITY, EGYPT
- 2. A ?? year-oldboy with pallor (anemia) and red urine (hemoglobinuria) Child 3 yrs old with sudden pallor , red urine and abdominal pain for 1 day before admission. HISTORY OF FALAFEL
- 3. • What arecharacteristics of hemolytic anemia? Hemolytic anemia is a state of decreased red blood cells survival. Patients with hemolytic anemia present with pallor, increased reticulocyte count which reflects bone marrow response and indirect hyperbilirubinemia which resulls from a breakdown of red blood cells.
- 5. G6PD DEFICIENCY • Xlinked (mainly boys), less common AR • Mediterranean countries , Arabic gulf countries, USA, china • Pentose pathway (G6PD) ----NADPH to prevent oxidative damage of RBC
- 6. Background on G6PD •G6PD is an enzyme in the pentose phosphate pathway • Converts NADP+ to NADPH • G6PD deficiency is a sex-linked genetic disorders, with full expression in males • Persons who are G6PD deficient are at increased risk for experiencing hemolytic anemia when taking FAVA
- 7. G6PD Genetic Variants •(A - ) Variant affects approximately 10% of African Americans – enzyme usually >10% normal • (B - ) Variant (MED) is the most common type affecting people from Eastern Mediterranean – Enzyme usually <10% of normal
- 8. 1. NADH cytb5 reductase 2. NADPH MetHbreductase 3. Glutathione reductase 1. 2. 3. Oxidative stressGlycolytic pathway Glyceraldehyde 3 phosphate 3phosphoglycerate Glucose Glucose-6-P Fructose-6-P Fructose- 1,6dP Pyruvate Lactate Pyruvate kinase G6PD 6-Pgluconate Ribose-5-P Pentose Phospate Shunt Pathway NAD NADH ADP ATP ADP ATP NADP NADPH GSH GSSG
- 12. Treatment • Hospitalization • PackedRBC transfer till hemoglobin no more decrease and start to increase spontaneously • Do G6PD enzyme assay after 4-6 weeks ( because immature RBC still have the enzyme so pseudo resut)
- 13. FOOD, Drugs andChemicals That Should Be Avoided by Persons With G6PD Deficiency • 1- fava beans (alfoole) )
- 15.
- 17. FOOD, Drugs andChemicals That Should Be Avoided by Persons With G6PD Deficiency •2- drugs: •Antipyretics: except paracetamol •Sulfa drugs •Antimalarias •Nitrofurans •Antibiotics: chloramphenical •Synthetic Vit K •Infections : viral diseases as hepatitis, •Diabetic ketoacidosis : DKA •Chemicals : Methylene blue, naphthalene, benzene
Editor's Notes
- #7 G6PD is an enzyme which is part of the biochemical pathway that produces hydrogen molecules for reduction equivalents in biosynthesis. G6PD is a gene that falls on the X chromosome and thus is sex linked with full expression in males. G6PD gene has been extensively selected over the past 10,000 years apparently for its survival advantage during malaria infection. The practical problem for people with a deficiency in G6PD is that they can have hemolytic anemia when exposed to a variety of drugs. The exact mechanism with oxidizing agents is clear, but that is not true with primaquine which also initiates hemolytic anemia in G6PD persons.
- #8 -There are many G6PD variants which have been studied genetically. Two groups are of importance for this discussion A minus is the most common form of G6PD deficiency and is primarily found in persons of African descent. It is a relatively mild deficiency with most persons having &gt;10% activity of the normal enzyme. B minus gene is primarily found in people of Mediterranean descent such as Greeks, Italians, Turks, Libyans, Moroccans etc. It is a more severe deficiency with a much higher likelihood of severe hemolysis if exposed to an initiating agent.