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Arthropathy in hereditary hemochromatosis
Current Opinion in Rheumatology, 2001Arthropathy is one of the leading clinical manifestations of hereditary hemochromatosis (HH). Although cirrhosis of the liver is crucial for mortality in patients with HH, arthropathy has the greatest impact on the quality of life. Several mutations in the HFE and other genes have recently been identified, and the prevalence of some of these mutations ...
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High liver FDG uptake on PET/CT in patient with lymphoma diagnosed with hereditary hemochromatosis.
Clinical Nuclear Medicine, 2015Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs. We present a 64-year-old white man with non-Hodgkin lymphoma treated with high-dose chemotherapy and stem cell ...
J. Infante +5 more
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Comprehensive hereditary hemochromatosis genotyping
Tissue Antigens, 2002Abstract: Hereditary hemochromatosis (HH) is an iron‐overload disease common in populations of Northern European origin. Patients display increased iron absorption leading to excessive iron deposition and potential multiorgan failure. Using polymerase chain reaction sequence‐specific primer (PCR‐SSP) technology, we have developed an HH diagnosis assay ...
Jones, D.C. +6 more
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Hereditary hemochromatosis: Laboratory evaluation
Clinica Chimica Acta, 2011The condition of hereditary hemochromatosis (HH) is caused by gene-dependent protein abnormalities involved in iron absorption, storage, or modulation of iron; these abnormalities result in iron overload. The clinical laboratory plays a significant role in case finding, diagnostic validation, and monitoring HH therapy.
John B. Gross +3 more
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Diagnosis and Management of Hereditary Hemochromatosis
Annual Review of Medicine, 1985Hereditary hemochromatosis is inherited in an autosomal recessive manner with partial biochemical expression in heterozygotes. A high percentage of saturation of serum transferrin is the hallmark of the disorder, and serum ferritin concentration gives an approximate estimation of the size of iron stores.
L S Valberg, C N Ghent
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Screening for Hereditary Hemochromatosis
American Journal of Gastroenterology, 2000TO THE EDITOR: Further to the article by Adams and Valberg recently published in this journal (1), we have some comments to add to their analysis of factors that have to be taken into account for hereditary hemochromatosis (HHC) screening using the genetic test.
Cécile Julier +3 more
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Molecular Diagnosis of Hereditary Hemochromatosis
2003Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism with a frequency of homozygosity in the Caucasian population of 1 in 200-400. The pathophysiologic hallmark of HH is chronic, increased absorption of dietary iron beyond that required for normal iron homeostasis.
Karl V. Voelkerding, Suzanne Huber
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Medizinische Klinik (Munich, Germany : 1983), 2003
Genetic hemochromatosis is classified into four subtypes of which only type 1 is of clinical importance in Caucasians. Type 1 is due to an autosomal recessive inborn error of metabolism; the homozygous C282Y mutation of the HFE gene on chromosome 6 accounts for more than 90% of the clinical phenotype in populations of Celtic origin.
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Genetic hemochromatosis is classified into four subtypes of which only type 1 is of clinical importance in Caucasians. Type 1 is due to an autosomal recessive inborn error of metabolism; the homozygous C282Y mutation of the HFE gene on chromosome 6 accounts for more than 90% of the clinical phenotype in populations of Celtic origin.
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Identification of Genes for Hereditary Hemochromatosis.
Methods in molecular biology, 2018G. Gerhard, B. Paynton, J. DiStefano
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