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What is MOST common mutation seen in heriditary hemochromatosis is: and explain in detail?
The most common mutation in hereditary hemochromatos is a homozygous G to A mutation resulting in a cysteine to tyrosine substitution at position 282 (C282Y). Another relatively common mutation (H63D) results in a substitution of histidine to aspaic acid at codon 63. Mutations like transferrin receptor 2 TFR2 mutation and ferropoin 1 gene, SLC11A3 mutation are rare. Ref: Harrisons principles of internal medicine, 18th edition, Page: 3162