title: Transplantation of a liver with the C282Y mutation into a recipient heterozygous for H63D results in iron overload.
abstract: Hemochromatosis is a common hereditary disease associated with progressive iron overload eventually leading to parenchymal damage of the liver, heart, pancreas, and other organs. Liver transplantation has been the single most important therapy to extend long-term survival in patients with a variety of acute and chronic liver diseases. We report a case of inadvertent transplantation of a hemochromatotic liver into a nonhemochromatotic recipient, resulting in rapid iron overload. Neither the recipient nor the donor had iron overload at the time of transplantation, but the donor liver was subsequently found to be homozygous for C282Y mutation. The report includes 8 years follow-up, serial biopsies, and molecular studies. Iron overload in our patient transplanted with a C282Y homozygous liver provides an "in vivo" model for the pathophysiology of hemochromatosis and further supports liver playing a primary role in the maintenance of iron hemostasis rather intestine being the sole regulatory site.
authors.affiliation: Gastroenterology Service, VAMC, Memphis, Tennessee 38104, USA. mismail@utmem.edu
authors.forename: Mohammad K
authors.initials: MK
authors.lastname: Ismail
authors.forename: Antonio
authors.initials: A
authors.lastname: Martinez-Hernandez
authors.forename: Steven
authors.initials: S
authors.lastname: Schichman
authors.forename: Sufiyan
authors.initials: S
authors.lastname: Chaudhry
authors.forename: Bradford
authors.initials: B
authors.lastname: Waters
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D016031:Liver Transplantation / Q000009:adverse effects*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D013997:Time Factors; D014019:Tissue Donors
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron