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Does (HFE) hemochromatosis exist in India?

Does (HFE) hemochromatosis exist in India?. Rakesh Aggarwal Department of Gastroenterology SGPGI, Lucknow. Hemochromatosis.

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Does (HFE) hemochromatosis exist in India?

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  1. Does (HFE) hemochromatosis exist in India? Rakesh AggarwalDepartment of GastroenterologySGPGI, Lucknow

  2. Hemochromatosis A progressive increase in body iron content, leading to systemic iron loading of parenchymal cells (particularly hepatocytes) and, eventually, to organ disease.

  3. Iron homeostasis in humans Pietrangelo. New Engl J Med 2004; 350: 2383-97.

  4. Hemochromatosis: Types • Primary • Secondary • Parenteral iron overload • RBCs • Iron • Anemias • Chronic liver disease (esp alcohol)

  5. Hemochromatosis Pietrangelo. New Engl J Med 2004; 350: 2383-97.

  6. HFE gene frequency in Caucasians Harrison SA, Bacon BR. J Hepatol 2003; 38: S14-S23.

  7. C282Y HFE mutation: Indian population * PCR using sequence-specific primers

  8. HFE C282Y: Indian Thallassemics * PCR using sequence-specific primers

  9. HFE C282Y: Indian liver disease patients * PCR-RFLP** Non-alcoholic steatohepatitis*** With transferrin saturation >45%

  10. H63D HFE mutation in Indian population

  11. HFE H63D: Thallassemia / Liver disease

  12. Indian liver disease patients: Fe overload

  13. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.

  14. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.

  15. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.

  16. Indian patients with iron overload PCR-RFLP for C282Y Shukla et al. Natl Med J India 2006; 19: 20-3.

  17. Indian patients with iron overload • HFE gene • None of the 5 patients had C282Y mutation • One had homozygous H63D mutation • None had previously known splice site mutations • Four had a IVS2+4 T/C change • HAMP gene (Hepcidin) • None had G71A or IVS2+1(-G) mutation • SLC11A3 gene (Ferroportin) • None had G71A or IVS2+1(-G) mutation Shukla et al. Natl Med J India 2006; 19: 20-3.

  18. AAGG AAGG AAGG AAGG AAGG AAGG GTAYGTGGAGAGGGGGC GTACGTCGAGAGGGGGC GTAYGTGGAGAGGGGGC GTACGTCGAGAGGGGGC GTATGTGGAGAGGGGGC GTATGTGGAGAGGGGGC Indian patients with iron overload 1 2 3 4 5 6 1 2 3 4 5 6 Intron Splice site Exon Z92910.1 Patient #1 Patient #2 Patient #3 Patient #4 Patient #5 Y = T or C Shukla et al. Natl Med J India 2006; 19: 20-3.

  19. Other data from the Indian subcontinent Lok et al. Blood 2009; 114: 20-5.

  20. Hemochromatosis in India: Summary • Iron overload Occasional • C282Y mutation Very infrequent • C282Y HFE disease Extremely rare

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