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Iron overload (hemochromatosis) is a condition which causes the intestines to take too much iron into the body from food or pills. The extra iron can build up in the liver, heart, joints, pancreas, sex organs, and other organs. Patients with iron overload can feel well initially, but the iron will eventually damage organs and may lead to an early death. The condition is believed to be passed down from generation to generation. Many studies have been conducted on the condition as it affects Caucasian Americans, few have addressed the condition in African Americans.
Researchers believe it is important to find out as much as possible about the iron overload in African Americans. The goal of this study is to determine the pattern of inheritance of primary iron overload in African American families and to identify the genetic defect causing the condition.
The study will use various tests from simple blood testing (transferritin saturation and serum ferritin levels) to complex genetic tests (segregation analysis and polymerase chain reaction [PCR]). The tests will help researchers deterimine iron levels in the blood, presence of antigens that may help trace inheritance, and detect changes in genes that are known to cause iron overload in Caucasians.
The study may not directly benefit the patients participating in it. However, this study may lead to improved methods to diagnose iron overload in the African American population as a whole.
The purpose of this project is to determine the pattern of inheritance of primary iron overload in African American families and to identify the genetic defect. The iron status of index subjects and family members will be determined by measuring transferrin saturation and serum ferritin, and the genetic pattern will be studied with segregation analysis. The chromosomal localization of the iron-loading locus will be pursued by determining HLA haplotypes, by testing for HFE gene mutations, by sequencing portions of genes for molecules involved in iron metabolism, by analyzing polymorphisms in these genes by PCR, by employing molecular methods to screen the genome, and by testing for linkage to iron phenotype with lod scores. Loci for proteins important in iron metabolism will be examined as candidate genes.
National Institute of Child Health and Human Development (NICHD)
National Institutes of Health Clinical Center (CC)
Published on BioPortfolio: 2014-07-23T21:58:43-0400
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)...
To determine optimal values for transferrin saturation for use in population screening for hereditary hemochromatosis.
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...
When patients receive repeated blood transfusions the level of iron in the patient's blood can rise. When iron is processed in the body a protein known as hemosiderin can begin collecting...
Heredity hemochromatosis (HH) is an underdiagnosed genetic disease that can lead to life-threatening multisystem organ failure. Identifying and treating HH early can prevent the progression of the dis...
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...
Genetic hemochromatosis is mainly related to the homozygous genotype for the HFE p.Cys282Tyr (C282Y) mutation leading to hepcidin deficiency. Its low penetrance suggests the involvement of cofactors m...
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that occurs in approximately 1 in 200-250 individuals. Mutations in the HFE gene leads to excess iron absorption. Excess iron in the ...
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...
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.
Human histocompatibility (HLA) surface antigen encoded by the A locus on chromosome 6. The allele occurs with increased frequency in individuals with idiopathic hemochromatosis. HLA-A3 is in linkage disequilibrium with HLA-B7 and HLA-DR2.
The techniques used to draw blood from a vein for diagnostic purposes or for treatment of certain blood disorders such as erythrocytosis, hemochromatosis, polycythemia vera, and porphyria cutanea tarda.
Human histocompatibility (HLA) surface antigen encoded by the B locus on chromosome 6. There is a weak association between the presence of the HLA-B7 antigen and the diseases of narcolepsy and idiopathic hemochromatosis. HLA-B7 is in linkage disequilibrium with HLA-A3 and HLA-DR2.
Food is any substance consumed to provide nutritional support for the body. It is usually of plant or animal origin, and contains essential nutrients, such as carbohydrates, fats, proteins, vitamins, or minerals. The substance is ingested by an organism ...
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...
Cardiology is a specialty of internal medicine. Cardiac electrophysiology : Study of the electrical properties and conduction diseases of the heart. Echocardiography : The use of ultrasound to study the mechanical function/physics of the h...