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The purpose of this study was to assess whether a specific liver attenuation threshold for unenhanced CT allows both sensitive opportunistic detection of unsuspected hereditary hemochromatosis and low overall screening test-positive rates.
This article was published in the following journal.
Name: AJR. American journal of roentgenology
Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthr...
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion. The primary manifestation of AAT is early-onset pulmonary disease...
Hereditary hemochromatosis (HH) is one of the most common genetic disorders in Caucasian populations, with no viable therapeutic options except phlebotomy. We describe a zebrafish model of human HH (H...
Hereditary hemochromatosis (HH) is a rare disorder in Indians and is not associated with the common mutation Cys282Tyr in HFE gene found in Caucasians. Non-HFE HH can be associated with mutations in H...
To determine optimal values for transferrin saturation for use in population screening for hereditary hemochromatosis.
To examine the cost effectiveness of hereditary hemochromatosis (HH) screening in primary care.
This study is a Phase 2 multicenter, randomized, placebo controlled, double-blind study. The primary objective of the study is to evaluate the effect of LJPC-401 (synthetic human hepcidin)...
Brief Summary This study is being carried out in order to test a new oral treatment for iron overload in patients with Hereditary Hemochromatosis. The study is also being carried out to fi...
The purpose of this study is to evaluate the efficacy and safety of deferasirox film coated tablet (FCT) versus phlebotomy for the management of iron overload in adults with HH at risk of ...
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary. Full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron. Acquired hemochromatosis may be the result of blood transfusions, excessive dietary iron, or secondary to other disease. Idiopathic or genetic hemochromatosis is an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6. (From Dorland, 27th ed)
A membrane protein and MHC class I antigen. It contains an IMMUNOGLOBULIN C1-SET DOMAIN and interacts with BETA 2-MICROGLOBULIN. It may also regulate the interaction of TRANSFERRIN with the TRANSFERRIN RECEPTOR. Mutations in the HFE gene are associated with cases of FAMILIAL HEMOCHROMATOSIS.
Examination of urine by chemical, physical, or microscopic means. Routine urinalysis usually includes performing chemical screening tests, determining specific gravity, observing any unusual color or odor, screening for bacteriuria, and examining the sediment microscopically.
Testing or screening required by federal, state, or local law or other agencies for the diagnosis of specified conditions. It is usually limited to specific populations such as categories of health care providers, members of the military, and prisoners or to specific situations such as premarital examinations or donor screening.
Hepatology is the study of liver, gallbladder, biliary tree, and pancreas, and diseases associated with them. This includes viral hepatitis, alcohol damage, cirrhosis and cancer. As modern lifestyles change, with alcoholism and cancer becoming more promi...