Does (HFE) hemochromatosis exist in India? Rakesh
Author : trish-goza | Published Date : 2025-05-10
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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Transcript:Does (HFE) hemochromatosis exist in India? Rakesh:
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 hepatocytes) and, eventually, to organ disease. Iron homeostasis in humans Pietrangelo. New Engl J Med 2004; 350: 2383-97. Hemochromatosis: Types Primary Secondary Parenteral iron overload RBCs Iron Anemias Chronic liver disease (esp alcohol) Hemochromatosis Pietrangelo. New Engl J Med 2004; 350: 2383-97. HFE gene frequency in Caucasians Harrison SA, Bacon BR. J Hepatol 2003; 38: S14-S23. C282Y HFE mutation: Indian population * PCR using sequence-specific primers HFE C282Y: Indian Thallassemics * PCR using sequence-specific primers HFE C282Y: Indian liver disease patients * PCR-RFLP ** Non-alcoholic steatohepatitis *** With transferrin saturation >45% H63D HFE mutation in Indian population HFE H63D: Thallassemia / Liver disease Indian liver disease patients: Fe overload Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3. Shukla et al. Natl Med J India 2006; 19: 20-3. Indian patients with iron overload PCR-RFLP for C282Y 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. Indian patients with iron overload Shukla et al. Natl Med J India 2006; 19: 20-3. Other data from the Indian subcontinent Lok et al. Blood 2009; 114: 20-5. Hemochromatosis in India: Summary Iron overload Occasional C282Y mutation Very infrequent C282Y HFE disease Extremely rare
