منابع مشابه
Transferrin saturation and screening of genetic hemochromatosis.
concentration of proteins in Hemoce, whereas the others detected various concentrations in the solution. The Hemoce dilutions and the results obtained after processing these dilutions on different analyzers are shown in Fig. 1. Because Hemoce is itself a mixture of polypeptides, it is inaccurate to say that Hemoce positively interferes with some urine protein methods. Nevertheless, when determi...
متن کاملHemochromatosis: clinical implications of genetic testing.
Hemochromatosis is one of the most common genetic diseases affecting Canadians of European ancestry. However, too often this disease is diagnosed in people who do not have it and is missed in those who do. By the time a diagnosis is made on the basis of symptoms, irreversible organ damage has often occurred. A missense mutation (the C282Y cysteine-to-tyrosine substitution) on chromosome 6 of th...
متن کاملHereditary hemochromatosis: genetic complexity and new diagnostic approaches.
Since the discovery of the hemochromatosis gene (HFE) in 1996, several novel gene defects have been detected, explaining the mechanism and diversity of iron-overload diseases. At least 4 main types of hereditary hemochromatosis (HH) have been identified. Surprisingly, genes involved in HH encode for proteins that all affect pathways centered around liver hepcidin synthesis and its interaction w...
متن کاملA liver fibrosis cocktail? Psoriasis, methotrexate and genetic hemochromatosis
BACKGROUND Pathologists are often faced with the dilemma of whether to recommend continuation of methotrexate therapy for psoriasis within the context of an existing pro-fibrogenic risk factor, in this instance, patients with genetic hemochromatosis. CASE PRESENTATIONS We describe our experience with two male psoriatic patients (A and B) on long term methotrexate therapy (cumulative dose A = ...
متن کاملAnatomic Pathology / PRIMARY LIVER CARCINOMA IN GENETIC HEMOCHROMATOSIS
Hepatocellular carcinoma (HCC) is a well-known complication of genetic hemochromatosis (GH). However, the frequency of primary liver carcinoma (PLC) with biliary differentiation, such as cholangiocarcinoma (CC) and combined hepatocholangiocarcinoma (CHCC), in GH remains unclear. We analyzed the histologic type of 20 PLCs occurring in the background of GH; all patients were homozygotic for the C...
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ژورنال
عنوان ژورنال: Digestive Diseases
سال: 1996
ISSN: 0257-2753,1421-9875
DOI: 10.1159/000171564