IRON OVERLOAD power point.pptVIP

IRON OVERLOAD Prepared by:Najla AbdulAziz Al-SweelSupervised by:Dr.Sadia Ajumand Iron Homeostasis: Iron absorption is regulated by three mechanisms: 1-dietary regulator 2-stores regulator 3-erythropoietic regulator  Definition of iron overload: A polyetiologic condition characterized by a moderate or severe increase in body iron levels that has or will have negative effects on health. Classification: 1-Primary iron overload A) Hereditary hemochromchromatosis: B) Aceruloplasminaemia C) Congenital atransferrinaemia D) Neonatal hemochromatosis 2-Secondary iron overloadA) Dietary iron overloadB) Parenteral iron overload C) Iron loading anaemiasD) Long term haemodialysisE)Chronic liver disease:F) Porphyria cutanea tardaG) Post-portacaval shuntingH)Dysmetabolic iron overload syndrome 3-MiscellaneousIron overload in sub-Sahara Africa PRIMARY IRON OVERLOAD Hereditary Hemochromatosis (HH) Type 1 Haemochromatosis is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder. Epidemiology: Worldwide frequency of the C282Y and H63D mutations was found to be 1.9% and 8.1%, respectively. HH is the most commonly inherited disorder in white patients, especially in Caucasians of northern European descent. Symptoms of HH occur more frequently in males than in females, with a male-to-female ratio of 3:1. Symptoms of HH develop in persons older than 40 years. Genetics of HH Type 1: The HFE gene resides on chromosome 6, is located at band 6p22 and encodes a protein containing 343 amino acids. This HFE protein spans the cell membrane. Its external portion includes a nonfunctional peptide-binding domain, it has an alpha3 loop, the site where HFE associates with an accessory protein called beta2-microglobulin. This interaction is necessary for normal presentat