Bridle, KR, Frazer, DM, Wilkins, SJ, Dixon, JL, Millard, KN, Crawford, DHG, Subramaniam,
VN, Powell, LW, Anderson, GJ and Ramm , GA (2003). Failure of hepcidin upregulation in
HFE-associated haemochromatosis implicates the liver in the regulation of body iron ...

Background: Transoesophageal echocardiography (TOE) is a widely used imaging modality
in ambulatory patients, with a reportedly low complication rate. TOE is frequently performed
under conscious sedation. It is the imaging modality of choice for assessment of aortic ...

... The role of Doppler left ventricular filling indices and tissue Doppler echocardiography
in the assessment of cardiac involvement in hereditary haemochromatosis. Palka,
P., Macdonald, G., Lange, A., Banasiak, W. and Burstow ...

There is emerging evidence that there are genetic modifiers of iron indices for HFE gene
mutation carriers at risk of hereditary hemochromatosis. A random sample, stratified by HFE
genotype, of 863 from a cohort of 31 192 people of northern European descent provided ...

Abstract Milk thistle contains silybin, which is a potential iron chelator. We aimed to
determine whether silybin reduced iron absorption in patients with hereditary
haemochromatosis. In this crossover study, on three separate occasions, 10 patients who ...

Since the discovery of the haemochromatosis gene (HFE; chromosome 6p21. 3) associated
with haemochromatosis in 1996, many studies about diverse aspects of this common
genetic disorder have been done. Some patients present with cirrhosis and show high ...

The present invention relates to mutations in the gene coding for ferroportin 1 associated
with hereditary haemochromatosis and methods for the diagnosis of hereditary
haemochromatosis based on the identification of such mutations.

... The role of the ductular reaction in the progression of hepatic fibrosis in haemochromatosis.
Wood, MJ, Powell, LW, Ramm, GA and Clouston, AD (2010). The role of the ductular reaction
in the progression of hepatic fibrosis in haemochromatosis. ...

Abstract. Elmberg M, Hultcrantz R, Simard JF, Stål P, Pehrsson K, Askling J (Karolinska
University Hospital and Karolinska Institutet, Solna; Karolinska Institutet, Huddinge;
Karolinska Institutet, Solna; Karolinska Institutet, Huddinge, Karolinska University Hospital; ...

Low CD8+ T lymphocyte numbers have long been described in hereditary
haemochromatosis (HH). Recently, two conserved haplotypes localized near the
microsatellite D6S105 at the major histocompatibility complex (MHC) class I region were ...

Abstract Introduction Hereditary haemochromatosis (HH) is the most common genetic
abnormality in populations of Northern European ancestry. There are limited data on the
frequency of HFE in populations from the Indian subcontinent. Elevated serum ferritin (Fe) ...

Haemochromatosis can be defined as chronic iron overload of genetic origin. Although the
most frequent form remains, by far, HFE related haemochromatosis (C282Y/C282Y or type 1
haemochromatosis), several other entities have been identified: i) Juvenile (or type 2) ...

... The role of Doppler tissue echocardiography in the early assessment of cardiac
haemochromatosis. Palka, P., Macdonald, G., Pitcher, L., Lange, A. and Burstow, D. (2000) The
role of Doppler tissue echocardiography in the early assessment of cardiac haemochromatosis. ...

Abstract Haemochromatosis is predominantly associated with the HFE p. C282Y
homozygous genotype, which is present in approximately 1 in 200 people of Northern
European origin. However, not all p. C282Y homozygotes develop clinical features of ...

Results The incidence of a diagnosis of haemochromatosis increased approximately 2-fold over
the study period and was associated with a 2.2-fold increase in mortality [hazard ratio, 95% confidence
interval (95% CI), 1.6–3.0]. There was no increase in extra hepatic malignancy, but an ...

BACKGROUND & AIMS: Hereditary haemochromatosis type 3 is caused by mutations in
transferrin receptor (TFR) 2. TFR2 has been shown to mediate iron transport in vitro and
regulate iron homeostasis. The aim of this study was to determine the role of Tfr2 in iron ...

... Haemochromatosis. Fletcher, LM and Halliday, JW (2002). Haemochromatosis. In John Wass
and Stephen Shalet (Ed.), Oxford Textbook of Endocrinology and Diabetes (pp. 1595-1602) Oxford;
New York: Oxford University Press. Document type: Book Chapter. ...

Haemochromatosis should currently refer to hereditary iron overload disorders presenting
with a definite and common phenotype characterised by normal erythropoiesis, increased
transferrin saturation and ferritin and primarily parenchymal iron deposition related to ...

Five hundred and fifty-six men from the Norwich (UK) area, aged 40 years and over, were
recruited to studies investigating links between dietary iron, genotype and health (Roe et al.
2005). A 10 ml blood sample was taken and the HFE genotype was determined by the ...

... The role of hepatic stellate cells in tumour capsule formation in haemochromatosis
patients with hepatocellular carcinoma. Bridle, KR, Crawford, DHG, Powell, LW and
Ramm, GA (2001) The role of hepatic stellate cells in tumour ...

Abstract Hereditary haemochromatosis (HH) is a common genetic disorder of iron
metabolism in individuals of Northern European ancestry which leads to inappropriate iron
absorption from the intestine and iron overload in susceptible individuals. Iron overload is ...

OBJECTIVE: To determine whether there is iron overload by calculating the T2* value in the
liver and myocardium in patients with secondary haemochromatosis. To analyse the
correlation of the values obtained with the iron levels in blood, with the liver iron ...

Quantitative analysis of the temperature dependent AC magnetic susceptibility of freeze-
dried mouse tissues from an Hfe hereditary haemochromatosis disease model indicates that
iron predominantly appears biomineralised, like in the ferritin cores, in the liver, the spleen ...

HFE C282Y-homozygosity has been associated with low hepcidin expression, leading to increased
ferritin levels. However, serum hepcidin protein levels have not been documented in
humans. In the current study, we compared serum hepcidin levels of newly diagnosed ...

Abstract Background and Aims: During the long-term treatment of patients with hereditary
haemochromatosis (HH) the authors observed that proton pump inhibitors (PPI) reduced the
requirement for maintenance phlebotomy. Gastric acid plays a crucial role in non-haem ...

Background & aims Genetic Haemochromatosis (GH) is common in North European and
Celtic populations and is associated with arthropathy. We aimed to measure the frequency
of the common GH mutations (C282Y and H63D), the carrier frequency of C282Y and ...

A 35-year-old Pakistani man, resident in the UK, was referred to his local hospital because
of general malaise, weight loss and mildly deranged liver function tests. His medical history
included a recent diagnosis of insulin-dependent diabetes mellitus, and previous ...

... Clinical expression of HFE-associated haemochromatosis in subjects under 40 years of age.
Dixon, JL, Watt. EE, Ramm,GA, Subrmaniam, VN, Powell, LW and Anderson, GJ (2010). Clinical
expression of HFE-associated haemochromatosis in subjects under 40 years of age. ...

Background Hereditary haemochromatosis is a preventable cause of liver disease with an
increasing disease burden. Aims To investigate time trends for hospital admission ascribed
to haemochromatosis in England during the period from 1989/1990 to 2002/2003 and ...

Abstract The studies of the HFE mutations: H63D and C282Y in North African populations
have revealed the extreme rarity or even the absence of the C282Y mutation. We have
examined 200 chromosomes (100 Libyan people live in Benghazi) for the presence of the ...

Background Hereditary haemochromatosis (HH) is a common autosomal recessive inherited
disorder that frequently causes arthritis. The pathophysiology of musculoskeletal
involvement is, however, unclear. Objective To analyse synovial tissue obtained at ...

Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by germline mutations
in DNA mismatch repair genes; however, variation in disease expression suggests that there
are potential modifying factors. Polymorphisms of the HFE gene, which cause the iron ...

Abstract. Ellervik C, Tybjærg-Hansen A, Appleyard M, Ibsen H, Nordestgaard BG (Herlev
Hospital, Copenhagen University Hospital, University of Copenhagen, Herlev; Næstved
Hospital, University of Copenhagen, Naestved; Copenhagen University Hospital, ...

No abstract is available. To read the body of this article, please view the PDF online. ... © 2010
AGA. Published by Elsevier Inc. All rights reserved. ... Visit SciVerse ScienceDirect to see if you
have access via your institution. ... Advertisements on this site do not constitute a ...

Aims To assess the relation between moderate iron overload on sex hormone binding
globulin (SHBG) levels and gonadotroph function in men with dysmetabolic iron overload
syndrome and the effects of phlebotomy. Methods The relationship between magnetic ...

The implication of haemochromatosis(HFE) gene mutations in chronic viral hepatitis remains
controversial. The aim of the present study was to assess the frequencies of the common
haemochromatosis gene mutations in Moroccan subjects with chronic viral hepatitis B and ...

... Diabetes is associated with fibrosis progression in haemochromatosis. Wood, MJ,
Vigh, S., Dixon, JL, Ramm, GA and Powell, LW (2010). Diabetes is associated with
fibrosis progression in haemochromatosis. In: Australian ...

Hereditary haemochromatosis is an autosomal recessive genetic disease in which
increased intestinal absorption of iron causes accumulation in tissues, primarily the liver,
sometimes leading to organ damage. Liver deposits may result in cirrhosis and even ...

Abstract Purpose Hereditary haemochromatosis is a common genetic disorder involving
dysregulation of iron absorption. There is some evidence to suggest that abnormal iron
absorption and metabolism may influence the status of other important trace elements. In ...

Genetic haemochromatosis is a hereditary disease characterised by tissue iron overload. In
Caucasians it is most often due to homozygous C282Y HFE gene mutation, but other genes
may be involved. Without treatment by venesections, patients can develop life-threatening ...

A 38 year old Caucasian woman whose father and two brothers had been diagnosed with
hereditary haemochromatosis was found to have chronic fatigue and a serum ferritin of 1490
μg/l. Her transferrin saturation was 32% and her full blood count, liver biochemistry, ...

Abstract While classical hereditary haemochromatosis, usually associated with mutations in
the HFE gene, has an adult age onset and a long, progressive evolution, juvenile
haemochromatosis, most often associated with mutations in the HJV gene, is a more ...

A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence
that the Huh-7 is a human haemochromatotic cell line ... Atsuko Takano1,*, Hideki Niimi2,*, Yoshinari
Atarashi3, Takuro Sawasaki1, Teiichi Terasaki1, Tomoyuki Nakabay- ashi1, Isao ...

Abstract. Ellervik C, Tybjærg-Hansen A, Nordestgaard BG (Herlev Hospital, Herlev;
Naestved Hospital, Naestved; Copenhagen University Hospitals and Faculty of Health
Sciences, Copenhagen; Rigshospitalet, Copenhagen; The Copenhagen City Heart Study, ...

Background Arthropathy is one of the earliest and most common manifestations of hereditary
haemochromatosis with a significant impact on quality of life. Although its radiographic
features are well known, there is no assessment tool for their evaluation. Objective To ...

Georgetown University Home. Medical classification and the experience of genetic
haemochromatosis. DSpace/Manakin Repository. ... Login. Medical classification and the
experience of genetic haemochromatosis. Show full item record. ...

The present invention relates to mutations in the gene coding for ferroportin 1 associated
with hereditary haemochromatosis and methods for the diagnosis of hereditary
haemochromatosis based on the identification of such mutations.

Abstract Gene silencing through aberrant CpG island methylation is a frequent epigenetic
defect in hepatocellular carcinoma (HCC). However, nothing is known as yet whether
aberrant hypermethylation occurs already in non-neoplastic liver cells from patients with ...

Abstract For patients with end-stage renal disease and hereditary haemochromatosis,
prevention and treatment of anaemia differ from usual nephrologic guidelines. Monitoring of
individual disease progression and ferritin levels is crucial. We describe a case of a young ...

Objective. To determine the effects of iron depletion on serum levels of joint biomarkers and
on joint symptoms in patients with hereditary haemochromatosis (HH). Methods. Levels of
biomarkers were measured in 18 patients with HH at the time of diagnosis and after iron ...