DIAGNOSIS AND MANAGEMENT OF HAEMOCHROMATOSIS SINCE THE DISCOVERY OF THE <i>HFE</i> GENE: A EUROPEAN EXPERIENCE

Robson, Matthew D.; Merryweather-Clarke,; Pointon,; Shearman,; Halsall,; Kelly,; Cox, Simon R.; Rosenberg,; Howell,; Eccles, None; Patch,; Fowler, Marsha; Wallace, Marsha D.; Camaschella,; Roetto,; Zecchina,; Gobbi, De; Gasparini,; Cadet,; Vandwalle,; Capron,; Rochette,; Borot,; Demangel,; Dery, None; Vinel,; Pascal,; Coppin,; Röth,

doi:10.1046/j.1365-2141.2000.01687.x

Cited by 20 publications

(9 citation statements)

References 48 publications

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“…Because a genetic test is available for diagnosis, an emerging problem is patient referral for genotyping. Usually, the percentage of C282Y homozygous patients detected by laboratories that perform HFE genotyping is rather low, reflecting the problem of patient selection (75). Several cases are referred for hyperferritinemia, but hyperferritinemia alone rarely reflects true iron excess.…”

Section: Who Should Be Offered Molecular Diagnosis Of Hemochromatosis?mentioning

confidence: 99%

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Hereditary hemochromatosis: progress and perspectives

Camaschella¹,

Gobbi²,

Roetto³

2000

Rev Clin Exp Hematol

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Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism which leads to iron overload and organ failure. Clinical symptoms develop in mid‐life and are prevalent in males. If the disease is diagnosed before the onset of cirrhosis, treatment by phlebotomy normalizes life expectancy. To demonstrate the increased iron stores, liver biopsy has been the gold standard for diagnosis. The discovery of the HFE gene and of a prevalent mutation has had a great impact on the early detection of the disorder. Molecular diagnosis is now feasible for patients using noninvasive tests. Because the molecular defect identifies only the propensity to absorb excess iron, in the presymptomatic state molecular diagnosis must be combined with other tests to demonstrate iron overload. A minority of patients with hemochromatosis have wild‐type HFE. Two distinct disorders have been recognized among these patients. Young individuals with a severe iron loading may have juvenile hemochromatosis, a disorder linked to chromosome 1q. A subset of patients with adult presentation has a type of hemochromatosis linked to chromosome 7q, characterized by inactivation of transferrin receptor 2. These new findings may have an impact on diagnosis and are of relevance for a novel view of iron metabolism.

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Section: Who Should Be Offered Molecular Diagnosis Of Hemochromatosis?mentioning

confidence: 99%

“…Several algorithms for the diagnosis and screening of hemochromatosis have been proposed (40, 75, 81). Figure 4 reports a prospective proposal that takes into account the most recent advances.…”

Section: Who Should Be Offered Molecular Diagnosis Of Hemochromatosis?mentioning

confidence: 99%

Hereditary hemochromatosis: progress and perspectives

Camaschella¹,

Gobbi²,

Roetto³

2000

Rev Clin Exp Hematol

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“…Laboratory analyses, including high-sensitivity C-reactive protein (hs-CRP), were performed as described (15,16). According to an international consensus (17,18), a potentially relevant iron overload was defined as ferritin Ͼ300 g/l in men and Ͼ200 g/l in women. none, one to three, and more than three metabolic syndrome features, respectively; P Ͻ 0.001 by ANOVA).…”

Section: Research Design Andmentioning

confidence: 99%

Prevalence of Body Iron Excess in the Metabolic Syndrome

et al. 2005

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“…Acquired iron overload is due to increased intake and accumulation of iron secondary to a known cause such as multiple transfusions (Robson et al 2000 ). Iron shortens T2 and T2* relaxation times, resulting in a loss of signal on T1-weighted and T2-weighted MR images (Fig.…”

Section: Hepatic Iron Overloadmentioning

confidence: 99%

The Abdomen

Kühn¹,

Lühken²

2014

Whole-Body MRI Screening

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Focal liver lesions are present in more than 5 % of the population and are often detected incidentally when an imaging study is performed for another reason. In 40 % of cases, it is not possible to categorize such incidental lesions adequately by imaging ( Strobel and Bernatik 2006 ). Liver lesions are especially challenging for the radiologist interpreting whole-body screening MRI studies, which typically only include non-contrast-enhanced pulse sequences. With unenhanced MR images, only a crude characterization of focal liver lesions is possible.In the screening situation, we can roughly distinguish three categories of focal liver lesions: benign cysts and cyst-like lesions, benign solid masses, and solid malignancies (Table 8.1 ). Lesions with a cystic appearance such as dysontogenetic cysts, echinococcal cysts, and cavernous hemangiomas can be diagnosed with confi dence on the basis of an unenhanced MRI examination (including conventional T1-and T2-weighted sequences), and treatment recommendations can be made accordingly. This is not the case for solid liver lesions such as focal nodular hyperplasia, hepatocellular adenoma, metastasis, hepatocellular carcinoma, or cholangiocellular carcinoma. In most instances, a contrast-enhanced study is necessary to characterize solid liver lesions and estimate their total extent.

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DIAGNOSIS AND MANAGEMENT OF HAEMOCHROMATOSIS SINCE THE DISCOVERY OF THE HFE GENE: A EUROPEAN EXPERIENCE

Cited by 20 publications

References 48 publications

Hereditary hemochromatosis: progress and perspectives

Hereditary hemochromatosis: progress and perspectives

Prevalence of Body Iron Excess in the Metabolic Syndrome

The Abdomen

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