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Hemochromatosis in India: Understanding Iron Overload

This study explores the existence of hemochromatosis in India, analyzing gene frequencies, mutations, and disease prevalence among Indian populations. It presents findings on iron overload, HFE gene mutations, and liver diseases related to hemochromatosis.

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Hemochromatosis in India: Understanding Iron Overload

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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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