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G6PD
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<<forEachTiddler where 'tiddler.tags.contains(context.inTiddler.title)' sortBy tiddler.title ascending write '"*[["+tiddler.title+"]]\n"'>> <<tiddler AutoRefresh with: force>> Glucose-6-phosphate dehydrogenase (G6PD) deficiency - commonest red blood cell enzyme defect. Mediterranean and Africa people inherited in a X-linked recessive fashion. Many drugs can precipitate a crisis as well as infections and broad (fava) beans ''Pathophysiology'' ↓ G6PD → ↓ glutathione → increased red cell susceptibility to oxidative stress ''Features'' neonatal jaundice is often seen intravascular haemolysis gallstones are common splenomegaly may be present Heinz bodies on blood films Diagnosis is made by using a G6PD enzyme assay ''drugs causing haemolysis'' anti-malarials: primaquine ciprofloxacin sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas ''drugs thought to be safe'' penicillins cephalosporins macrolides tetracyclines trimethoprim Comparing G6PD deficiency to hereditary spherocytosis ||G6PD deficiency|Hereditary spherocytosis| |Gender|Male (X-linked recessive)|Male + female (autosomal dominant)| |Ethnicity|African + Mediterranean descent|Northern European descent| |Typical history|Neonatal jaundice|Neonatal jaundice| ||Infection/drugs precipitate haemolysis|Chronic symptoms although haemolytic crises may be precipitated by infection| ||Gallstones|Gallstones| |||Splenomegaly is common| |Blood film|Heinz bodies|Spherocytes (round, lack of central pallor)| |Diagnostic test|Measure enzyme activity of G6PD|Osmotic fragility test|
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Haematology