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Hemochromatosis Baghbanian M MD.

Hemochromatosis Baghbanian M MD. Genetic Diseases – Hemochromatosis - Normal Iron Balance. Ingested 10-20 mg/day. Absorbed 1-2 mg/day. Lost Gut, skin, urine - 1-2 mg/day Menses - 30 mg/month. Andrews NC, New Engl J Med 1999; 341:1986. Iron overload states. Classification.

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Hemochromatosis Baghbanian M MD.

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  1. Hemochromatosis Baghbanian M MD.

  2. Genetic Diseases – Hemochromatosis - Normal Iron Balance Ingested 10-20 mg/day Absorbed 1-2 mg/day Lost Gut, skin, urine - 1-2 mg/day Menses - 30 mg/month Andrews NC, New Engl J Med 1999; 341:1986

  3. Iron overload states Classification Hereditary hemochromatosis • HH: HFE related • C282Y homozygosity • C282Y/H63D compound heterozygosity • Other mutations of HFE • HH: non-HFE related; other gene mutations • Juvenile hemochromatosis • Autosomal dominant hemochromatosis (Solomon Islands)

  4. Iron overload states Classification Secondary iron overload • Iron-loading anemias ± transfusion • Thalassemia major • Sideroblastic anemia • Chronic hemolytic anemias • Dietary iron overload • Chronic liver diseases • Hepatitis C and B • Alcohol-induced liver disease • Porphyria cutanea tarda • Fatty liver disease

  5. Target populations for screening for HH

  6. Target populations for screening for HH

  7. Genetic Diseases - Hemochromatosis - Clinical Manifestations Pituitary Gonadotropin deficiency Skin bronzing Cardiomyopathy Conduction disorders Cirrhosis Hepatocellular carcinoma Diabetes mellitus Bacteremia Testicular atrophy Arthropathy Arthritis Pseudogout

  8. Diagnosis • Indirect serologic markers of iron stores: • Transferrin saturation (TS): serum iron divided by TIBC, multiplied by 100 • > 50 % for women or > 60 % for men has a sensitivity of 0.92, specificity of 0.93, and PPV of 86 % • Saturation cutoff of 45 % used in screening recommendations

  9. Diagnosis • Liver Biopsy: • Definitive diagnostic test of iron overload • Allows histochemical assessment of iron stores, measurement of hepatic iron concentration (HIC), detection of cirrhosis, and determination of disease stage • Qualitative hepatic iron determination with Perl’s staining • Quantitative confirmation of iron stores with HIC measurement

  10. Hemochromatosis

  11. Target population Symptomatic Asymptomatic Adult 1st degree Relative of HH Fasting transferrin saturation & serum ferritin Step 1 TS < 45 percent & normal ferritin TS ≥ 45 percent & ferritin elevated No further iron evaluation Genotype Step 2

  12. Target population TS<45 percent & normal ferritin TS<45 percent & ferritin elevated Genotype No further iron evaluation Step 2 C282Y/C282Y Compound heterozygote C282Y/H63D Heterozygote C282Y OR non-C282Y Age<40 years Ferritin<1000 AND normal ALT/AST Age>40 years and/or Ferritin>1000 Or elevated ALT/AST

  13. Target population Compound heterozygote C282Y/H63D Heterozygote C282Y OR non-C282Y Age<40 years Ferritin<1000 AND normal ALT/AST Age>40 years and/or Ferritin>1000 Or elevated ALT/AST Exclude other liver or hematologic diseases. ±Liver biopsy Therapeutic phlebotomy Liver biopsy for HIC and histopathology Step 3 ± +

  14. RJ: Liver Biopsy RJ: Liver Biopsy Quantitative liver iron = 300 mmole/g dry weight Iron index = 300 divided by 60 years of age = 5

  15. Criteria for initiating therapeutic phlebotomy

  16. Results of therapeutic phlebotomy in patients with hemochromatosis

  17. Results of therapeutic phlebotomy in patients with hemochromatosis

  18. Treatment of iron overload

  19. Treatment of iron overload

  20. The First case of HH from Iran

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