Does (HFE) hemochromatosis exist in India? Rakesh
Description: Does (HFE) hemochromatosis exist in India? Rakesh Aggarwal Department of Gastroenterology SGPGI, Lucknow Hemochromatosis A progressive increase in body iron content, leading to systemic iron loading of parenchymal cells (particularly
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slide1. Does (HFE) hemochromatosis exist in India? Rakesh Aggarwal Department of Gastroenterology SGPGI, Lucknow<br>
slide2. Hemochromatosis A progressive increase in body iron content, leading to systemic iron loading of parenchymal cells (particularly hepatocytes) and, eventually, to organ disease.<br>
slide3. Iron homeostasis in humans Pietrangelo. New Engl J Med 2004; 350: 2383-97.<br>
slide4. Hemochromatosis: Types Primary
Secondary
Parenteral iron overload
RBCs
Iron
Anemias
Chronic liver disease (esp alcohol)<br>
slide5. Hemochromatosis Pietrangelo. New Engl J Med 2004; 350: 2383-97.<br>
slide6. HFE gene frequency in Caucasians Harrison SA, Bacon BR. J Hepatol 2003; 38: S14-S23.<br>
slide7. C282Y HFE mutation: Indian population * PCR using sequence-specific primers<br>
slide8. HFE C282Y: Indian Thallassemics * PCR using sequence-specific primers<br>
slide9. HFE C282Y: Indian liver disease patients * PCR-RFLP ** Non-alcoholic steatohepatitis *** With transferrin saturation >45%<br>
slide10. H63D HFE mutation in Indian population<br>
slide11. HFE H63D: Thallassemia / Liver disease<br>
slide12. Indian liver disease patients: Fe overload<br>
slide13. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide14. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide15. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide16. Shukla et al. Natl Med J India 2006; 19: 20-3. Indian patients with iron overload PCR-RFLP for C282Y<br>
slide17. 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 Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide18. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide19. Other data from the Indian subcontinent Lok et al. Blood 2009; 114: 20-5.<br>
slide20. Hemochromatosis in India: Summary Iron overload Occasional
C282Y mutation Very infrequent
C282Y HFE disease Extremely rare<br>
slide2. Hemochromatosis A progressive increase in body iron content, leading to systemic iron loading of parenchymal cells (particularly hepatocytes) and, eventually, to organ disease.<br>
slide3. Iron homeostasis in humans Pietrangelo. New Engl J Med 2004; 350: 2383-97.<br>
slide4. Hemochromatosis: Types Primary
Secondary
Parenteral iron overload
RBCs
Iron
Anemias
Chronic liver disease (esp alcohol)<br>
slide5. Hemochromatosis Pietrangelo. New Engl J Med 2004; 350: 2383-97.<br>
slide6. HFE gene frequency in Caucasians Harrison SA, Bacon BR. J Hepatol 2003; 38: S14-S23.<br>
slide7. C282Y HFE mutation: Indian population * PCR using sequence-specific primers<br>
slide8. HFE C282Y: Indian Thallassemics * PCR using sequence-specific primers<br>
slide9. HFE C282Y: Indian liver disease patients * PCR-RFLP ** Non-alcoholic steatohepatitis *** With transferrin saturation >45%<br>
slide10. H63D HFE mutation in Indian population<br>
slide11. HFE H63D: Thallassemia / Liver disease<br>
slide12. Indian liver disease patients: Fe overload<br>
slide13. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide14. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide15. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide16. Shukla et al. Natl Med J India 2006; 19: 20-3. Indian patients with iron overload PCR-RFLP for C282Y<br>
slide17. 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 Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide18. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3.<br>
slide19. Other data from the Indian subcontinent Lok et al. Blood 2009; 114: 20-5.<br>
slide20. Hemochromatosis in India: Summary Iron overload Occasional
C282Y mutation Very infrequent
C282Y HFE disease Extremely rare<br>