1.
Hepatic iron overload following liver transplantation of a C282y homozygous allograft: a case report and literature review.
Dwyer, JP, Sarwar, S, Egan, B, Nolan, N, Hegarty, J
Liver international : official journal of the International Association for the Study of the Liver. 2011;(10):1589-92
Abstract
Hereditary haemochromatosis is a common genetic disease associated with progressive iron overload and parenchymal organ damage including liver, pancreas and heart. We report a case of inadvertent transplantation of a liver from a haemochromatosis donor to a 56-year-old Asian female. Progressive iron overload occurred over a 2 year follow up as assessed by liver biopsy and iron studies in the absence of a secondary cause of iron overload, supporting a primary role of liver rather than small intestine in the regulation of iron homeostasis in hereditary haemochromatosis.
2.
Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature.
Young, LC
Cutis. 2007;(5):415-8
Abstract
Porphyria cutanea tarda (PCT) typically presents with complaints of fragile skin, dorsal hand vesicles, erosions, and scars, and increased levels of uroporphyrins. A case of PCT caused by iron overload associated with hereditary hemochromatosis (HH) is reported. The laboratory workup revealed the patient was homozygous for the Cys282Tyr mutation in the HFE (hemochromatosis) gene. The associated diagnosis of HH was critical because without early treatment, damage to vital organs and premature death could occur. This report highlights the important association of PCT with HH and reviews the role of key genetic and hormonal factors in iron regulation.