Screening of Patients With Iron Overload to Identify Hemochromatosis and Porphyria Cutanea Tarda

O’Reilly, Fiona; Darby, C; Fogarty, J.; Tormey, William; Kay, E.; Leader, M.; Murphy, G. M.

doi:10.1001/archderm.1997.03890450044005

Cited by 27 publications

(9 citation statements)

References 14 publications

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“…It is the most common autosomal recessive genetic disorder (McCullen et al 2002) and the most common cause of severe iron overload (O'Reilly et al 1997). Clinical manifestations of HH include the following: liver disease (hepatomegaly, 13 %; cirrhosis, 13 % usually late in the disease); skin bronzing or hyperpigmentation (70 %); diabetes mellitus (48 %); arthropathy; amenorrhea, impotence, hypogonadism; cardiomyopathy; osteopenia and osteoporosis (Valenti et al 2009); hair loss; koilonychia (spoon nails) (Centers for Disease Control and Prevention [CDC] 2006).…”

Section: Hemochromatosis (Hh)mentioning

confidence: 99%

Subjects At‐Risk for Genetic Diseases in Portugal: Illness Representations

Leite

Dinis

Sequeiros

et al. 2015

Journal of Genetic Counseling

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This study investigates illness representations of subjects at-risk for 3 autosomal dominant late-onset disorders: Familial Amyloid Polyneuropathy (FAP) TTR V30M, Huntington's disease (HD) and Machado-Joseph disease (MJD), comparing them with the illness representations of subjects at-risk for Hemochromatosis (HH). The present study included a clinical group that consisted of 213 subjects at genetic risk (FAP, HD and MJD), comprising 174 subjects at-risk for FAP, 34 subjects at-risk for HD and only 5 subjects at-risk for MJD; and the control group consisting of 31 subjects at genetic risk for HH. All subjects at-risk were undergoing the process of genetic counseling to learn their genetic status (carrier or non-carrier). Subjects were assessed through a semi-structured single interview, in order to obtain sociodemographic data and the answer to an open-ended question relating to the illness representation issue: "What does this illness mean to you?/ What is this disease to you?" It was in the subjects' metaphors that subjects best expressed what they felt regarding the disease and the situation of being at-risk for this disease. Family is their mirror and their source of learning and, therefore, it is inevitable that family is related to the meaning of the disease itself.

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Section: Hemochromatosis (Hh)mentioning

confidence: 99%

Subjects At‐Risk for Genetic Diseases in Portugal: Illness Representations

Leite

Dinis

Sequeiros

et al. 2015

Journal of Genetic Counseling

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“…We used a ferritin concentration of 500 mg/L as a first line step to discriminate cases since this was also used by O'Reilly et al 2 which allows comparison between the two studies. Our findings are supportive as the identification rate of 36% with iron overload and 1.25% with PCT are not dissimilar from their findings of 17.5% and 6.7% with iron overload and PCT respectively.…”

Section: Discussionmentioning

confidence: 99%

“…1 PCT is a blistering skin condition related to inherited or acquired deficiency of hepatic uroporphyrinogen decarboxylase and hereditary haemochromatosis (HH) is an inherited condition causing unregulated intestinal iron absorption. In order to explore whether hyperferritinaemia was related to either PCT or HH, O'Reilly et al 2 identified subjects presenting to the departments of emergency care, gastroenterology, and dermatology in an acute hospital. Over a four-month period they identified 74 subjects with elevated ferritin (>500 mg/L) and determined that 18 (24%) had either PCT or HH.…”

Section: Introductionmentioning

confidence: 99%

Cascade testing of primary care blood samples with hyperferritinaemia identifies subjects with iron overload and porphyria cutanea tarda

2013

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“…Die Vererbung des Hämochromatose-Gens (HFE), das auch für die HLA-Klasse I (HLA-A3) kodiert, erhöht die Prädisposition für die Manifestation einer PCT [19,45,61]. Die Vererbung des Hämochromatose-Gens (HFE), das auch für die HLA-Klasse I (HLA-A3) kodiert, erhöht die Prädisposition für die Manifestation einer PCT [19,45,61].…”

Section: Pct Und Hämochromatoseunclassified