Article
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Blood - 5 Jul 2018
Sandhu Kam, Flintoff Kaledas, Chatfield Mark D, Dixon Jeannette L, Ramm Louise E, Ramm Grant A, Powell Lawrie W, Subramaniam V Nathan, Wallace Daniel F
Abstract excerpt
The clinical progression of HFE-related hereditary hemochromatosis (HH) and its phenotypic variability has been well studied. Less is known about the natural history of non-HFE HH caused by mutations in the HJV, HAMP, or TFR2 genes. The purpose of this study was to compare the phenotypic and clinical presentations of hepcidin-deficient forms of HH. A literature review of all published cases of genetically...
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