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Recent advances in hereditary hemochromatosis
Annals of Hematology, 2005Hereditary hemochromatosis, a very common genetic defect in the Caucasian population, is characterized by progressive tissue iron overload which leads to irreversible organ damage if it is not treated in a timely manner. Recent developments in the field of molecular medicine have radically improved the understanding of the physiopathology and diagnosis
Dino Veneri, Massimo Franchini
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Hemochromatosis: Hereditary hemochromatosis and HFE gene
2019Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic effects. HH is one of the most common genetic disorders in individuals of European descent.
Nikolaos Drakoulis +3 more
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Hereditary hemochromatosis: update for 2003
Journal of Hepatology, 2003The term ‘hemochromatosis’ was first used by von Recklinghausen, a German pathologist in the late 1800s [1]; he determined that the pigmentation seen in patients with advanced hemochromatosis was due to iron. In 1935, Joseph Sheldon, a British geriatrician, published a monograph describing over 300 patients with hemochromatosis [2].
Stephen A. Harrison, Bruce R. Bacon
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Clinical Perspectives on Hereditary Hemochromatosis
Critical Reviews in Clinical Laboratory Sciences, 2008Hereditary hemochromatosis (HH) comprises a group of inherited disorders of iron metabolism that can result in progressive iron overload, morbidity, and mortality, generally in adulthood. HFE-related HH is the most common type of HH and will form the core of this discussion. The discovery of new proteins and gene mutations has defined other types of HH,
Ayonrinde, Oyekoya T. +4 more
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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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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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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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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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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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