Histocompatibility Antigens Class I
Antimicrobial Cationic Peptides
Porphyria Cutanea Tarda
Iron Metabolism Disorders
Cation Transport Proteins
Iron Chelating Agents
Chromosomes, Human, Pair 6
Metal Metabolism, Inborn Errors
Mononuclear Phagocyte System
Bone Morphogenetic Protein 6
Anemia, Dyserythropoietic, Congenital
Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. (1/803)Juvenile haemochromatosis is a rare inborn error of iron metabolism with clinical manifestations before 30 years of age. Unlike adult haemochromatosis which principally affects men, juvenile haemochromatosis affects the sexes equally; it causes early endocrine failure, dilated cardiomyopathy and joint disease. We report four patients (two of each sex) from three pedigrees affected by juvenile haemochromatosis with a mean onset at 22 years (range 14-30). All had endocrine deficiency with postpubertal gonadal failure secondary to pituitary disease; two suffered near-fatal cardiomyopathy with heart failure. Mean time to diagnosis from the first clinical signs of disease was 9.8 years (range 0.5-20) but general health and parameters of iron storage responded favourably to iron-depletion therapy. A 24-year-old man listed for heart transplantation because of cardiomyopathy [left ventricular (LV) ejection fraction 16%] responded to intravenous iron chelation with desferrioxamine combined with phlebotomy (ejection fraction 31%). A 27-year-old woman with subacute biventricular heart failure refractory to medication required orthotopic cardiac transplantation before the diagnosis was established (LV ejection fraction 25%). Genetic studies showed that these two patients with cardiomyopathy from unrelated families were heterozygous for the HFE 845G-->A (C282Y) mutation and wild-type at the H63D locus: complete sequencing of the intron-exon boundaries and entire coding sequence of the HFE gene failed to identify additional lesions. Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p. Juvenile haemochromatosis is thus a genetically heterogenous disorder distinct from the common adult variant. (+info)
Oval cell numbers in human chronic liver diseases are directly related to disease severity. (2/803)The risk of developing hepatocellular carcinoma is significantly increased in patients with genetic hemochromatosis, alcoholic liver disease, or chronic hepatitis C infection. The precise mechanisms underlying the development of hepatocellular carcinoma in these conditions are not well understood. Stem cells within the liver, termed oval cells, are involved in the pathogenesis of hepatocellular carcinoma in animal models and may be important in the development of hepatocellular carcinoma in human chronic liver diseases. The aims of this study were to determine whether oval cells could be detected in the liver of patients with genetic hemochromatosis, alcoholic liver disease, or chronic hepatitis C, and whether there is a relationship between the severity of the liver disease and the number of oval cells. Oval cells were detected using histology and immunohistochemistry in liver biopsies from patients with genetic hemochromatosis, alcoholic liver disease, or chronic hepatitis C. Oval cells were not observed in normal liver controls. Oval cell numbers increased significantly with the progression of disease severity from mild to severe in each of the diseases studied. We conclude that oval cells are frequently found in subjects with genetic hemochromatosis, alcoholic liver disease, or chronic hepatitis C. There is an association between severity of liver disease and increase in the number of oval cells consistent with the hypothesis that oval cell proliferation is associated with increased risk for development of hepatocellular carcinoma in chronic liver disease. (+info)
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. (3/803)X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinically pyridoxine-responsive. The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather. There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder. One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness. Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia. (+info)
Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. (4/803)Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption. We recently reported that HFE, the protein defective in HH, was physically associated with the transferrin receptor (TfR) in duodenal crypt cells and proposed that mutations in HFE attenuate the uptake of transferrin-bound iron from plasma by duodenal crypt cells, leading to up-regulation of transporters for dietary iron. Here, we tested the hypothesis that HFE-/- mice have increased duodenal expression of the divalent metal transporter (DMT1). By 4 weeks of age, the HFE-/- mice demonstrated iron loading when compared with HFE+/+ littermates, with elevated transferrin saturations (68.4% vs. 49.8%) and elevated liver iron concentrations (985 micrograms vs. 381 micrograms). By using Northern blot analyses, we quantitated duodenal expression of both classes of DMT1 transcripts: one containing an iron responsive element (IRE), called DMT1(IRE), and one containing no IRE, called DMT1(non-IRE). The positive control for DMT1 up-regulation was a murine model of dietary iron deficiency that demonstrated greatly increased levels of duodenal DMT1(IRE) mRNA. HFE-/- mice also demonstrated an increase in duodenal DMT1(IRE) mRNA (average 7.7-fold), despite their elevated transferrin saturation and hepatic iron content. Duodenal expression of DMT1(non-IRE) was not increased, nor was hepatic expression of DMT1 increased. These data support the model for HH in which HFE mutations lead to inappropriately low crypt cell iron, with resultant stabilization of DMT1(IRE) mRNA, up-regulation of DMT1, and increased absorption of dietary iron. (+info)
The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. (5/803)HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prasss, C. E., Quintana, L., Starnes, S. M., Schatzman, R. C., Brunke, K. J., Drayna, D. T., Risch, N. J., Bacon, B. R., and Wolff, R. R. (1996) Nat. Genet. 13, 399-408). At the cell surface, HFE complexes with transferrin receptor (TfR), increasing the dissociation constant of transferrin (Tf) for its receptor 10-fold (Gross, C. N., Irrinki, A., Feder, J. N., and Enns, C. A. (1998) J. Biol. Chem. 273, 22068-22074; Feder, J. N., Penny, D. M., Irrinki, A., Lee, V. K., Lebron, J. A., Watson, N. , Tsuchihashi, Z., Sigal, E., Bjorkman, P. J., and Schatzman, R. C. (1998) Proc. Natl. Acad. Sci. U S A 95, 1472-1477). HFE does not remain at the cell surface, but traffics with TfR to Tf-positive internal compartments (Gross et al., 1998). Using a HeLa cell line in which the expression of HFE is controlled by tetracycline, we show that the expression of HFE reduces 55Fe uptake from Tf by 33% but does not affect the endocytic or exocytic rates of TfR cycling. Therefore, HFE appears to reduce cellular acquisition of iron from Tf within endocytic compartments. HFE specifically reduces iron uptake from Tf, as non-Tf-mediated iron uptake from Fe-nitrilotriacetic acid is not altered. These results explain the decreased ferritin levels seen in our HeLa cell system and demonstrate the specific control of HFE over the Tf-mediated pathway of iron uptake. These results also have implications for the understanding of cellular iron homeostasis in organs such as the liver, pancreas, heart, and spleen that are iron loaded in hereditary hemochromatotic individuals lacking functional HFE. (+info)
Multicentric origin of hemochromatosis gene (HFE) mutations. (6/803)Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. In northwestern Europe, >80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein. In a proportion of GH patients, two mutations are present, C282Y and H63D. The clinical significance of this second mutation is such that it appears to predispose 1%-2% of compound heterozygotes to expression of the disease. The distribution of the two mutations differ, C282Y being limited to those of northwestern European ancestry and H63D being found at allele frequencies>5%, in Europe, in countries bordering the Mediterranean, in the Middle East, and in the Indian subcontinent. The C282Y mutation occurs on a haplotype that extends +info)
Iron overload in porphyria cutanea tarda. (7/803)BACKGROUND AND OBJECTIVE: Porphyria cutanea tarda (PCT) is a disorder of porphyrin metabolism associated with decreased activity of uroporphyrinogen decarboxylase (URO-D) in the liver. The relevance of iron in the pathogenesis of PCT is well established: iron overload is one of the factors that trigger the clinical manifestations of the disease and iron depletion remains the cornerstone of therapy for PCT. A role for genetic hemochromatosis in the pathogenesis of iron overload in PCT has been hypothesized in the past but only after the recent identification of the genetic defect causing hemochromatosis has the nature of this association been partially elucidated. This review will outline current concepts of the pathophysiology of iron overload in PCT as well as recent contributions to the molecular epidemiology of hemochromatosis defects in PCT. EVIDENCE AND INFORMATION SOURCES: The authors of the present review have a long-standing interest in the pathogenesis, etiology and epidemiology of iron overload syndromes. Evidence from journal articles covered by the Science Citation Index(R) and Medline(R) has been reviewed and collated with personal data and experience. STATE OF THE ART AND PERPECTIVES: Mild to moderate iron overload plays a key role in the pathogenesis of PCT. The recent identification of genetic mutations of the hemochromatosis gene (HFE) in the majority of patients with PCT confirms previous hypotheses on the association between PCT and hemochromatosis, allows a step forward in the understanding of the pathophysiology of the disturbance of iron metabolism in the liver of PCT patients, and provides an easily detectable genetic marker which could have a useful clinical application. Besides the epidemiological relevance of the association between PCT and hemochromatosis, however, it remains to be fully understood how iron overload, and in particular the cellular modifications of the iron status secondary to hemochromatosis mutations, affect the activity of URO-D, and how the altered iron metabolism interacts with the other two common triggers for PCT and etiological agents for the associated liver disease: alcohol and hepatitis viruses. The availability of a genetic marker for hemochromatosis will allow some of these issues to be addressed by studying aspects of porphyrins and iron metabolism in liver samples obtained from patients with PCT, liver disease of different etiology and different HFE genotypes, and by in vitro studies on genotyped cells and tissues. (+info)
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. (8/803)Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. Two missense mutations have been described: C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes. We report here on the analysis of C282Y, H63D, and the 193A-->T substitution leading to the S65C missense substitution in a large series of probands and controls. The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation. In addition, our screening showed that the S65C substitution was significantly enriched in probands with at least one chromosome without an assigned mutation. This substitution accounted for 7.8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis. (+info)
Hemochromatosis is a genetic disorder that causes the body to absorb too much iron from the diet. This leads to an excess of iron in the body, which can cause damage to organs such as the liver, heart, and pancreas. Hemochromatosis is also known as idiopathic hemochromatosis or hereditary hemochromatosis. It is a common inherited disorder, affecting about 1 in every 200 people of Northern European descent. The symptoms of hemochromatosis can include fatigue, joint pain, abdominal pain, and liver disease. Treatment typically involves removing excess iron from the body through a process called phlebotomy.
Iron overload refers to a condition in which there is an excess amount of iron in the body. This can occur due to a variety of factors, including genetic disorders, excessive iron intake, or chronic blood loss. Iron is an essential nutrient that plays a vital role in many bodily functions, including the production of red blood cells and the transport of oxygen throughout the body. However, too much iron can be harmful and can lead to a range of health problems, including liver damage, heart disease, and diabetes. In the medical field, iron overload is typically diagnosed through blood tests that measure the amount of iron in the blood and liver. Treatment options for iron overload may include medications to reduce iron absorption, phlebotomy (regular blood donation) to remove excess iron, or in severe cases, a liver transplant.
In the medical field, "iron" refers to a mineral that is essential for the production of red blood cells, which carry oxygen throughout the body. Iron is also important for the proper functioning of the immune system, metabolism, and energy production. Iron deficiency is a common condition that can lead to anemia, a condition in which the body does not have enough red blood cells to carry oxygen to the body's tissues. Symptoms of iron deficiency anemia may include fatigue, weakness, shortness of breath, and pale skin. Iron supplements are often prescribed to treat iron deficiency anemia, and dietary changes may also be recommended to increase iron intake. However, it is important to note that excessive iron intake can also be harmful, so it is important to follow the recommended dosage and consult with a healthcare provider before taking any iron supplements.
Histocompatibility antigens class I (HLA class I) are a group of proteins found on the surface of almost all cells in the human body. These proteins play a crucial role in the immune system by presenting pieces of foreign substances, such as viruses or bacteria, to immune cells called T cells. HLA class I antigens are encoded by a group of genes located on chromosome 6. There are several different HLA class I antigens, each with a unique structure and function. The specific HLA class I antigens present on a person's cells can affect their susceptibility to certain diseases, including autoimmune disorders, infectious diseases, and cancer. In the context of transplantation, HLA class I antigens are important because they can trigger an immune response if the donor tissue is not a close match to the recipient's own tissue. This immune response, known as rejection, can lead to the rejection of the transplanted tissue or organ. Therefore, matching HLA class I antigens between the donor and recipient is an important consideration in transplantation.
Transferrin is a plasma protein that plays a crucial role in the transport of iron in the bloodstream. It is synthesized in the liver and transported to the bone marrow, where it helps to regulate the production of red blood cells. Transferrin also plays a role in the immune system by binding to and transporting iron to immune cells, where it is used to produce antibodies. In the medical field, low levels of transferrin can be a sign of iron deficiency anemia, while high levels may indicate an excess of iron in the body.
Hepcidins are a group of small, cysteine-rich peptides that are produced by the liver and other tissues in response to various stimuli, including inflammation, infection, and iron overload. They play a key role in regulating iron homeostasis in the body by inhibiting the release of iron from cells and blocking the absorption of iron from the diet. In the medical field, hepcidins are often studied in the context of iron-related disorders, such as anemia, iron deficiency, and iron overload. They are also being investigated as potential therapeutic targets for a variety of diseases, including cancer, infectious diseases, and inflammatory disorders.
Ferritins are a family of proteins that play a crucial role in the storage and regulation of iron in the body. They are found in almost all living organisms and are responsible for protecting iron from oxidation and preventing the formation of toxic free radicals. In the medical field, ferritins are often measured as a marker of iron status in the body. Low levels of ferritin can indicate iron deficiency, while high levels can indicate iron overload or other medical conditions such as inflammation or liver disease. Ferritins are also being studied for their potential therapeutic applications in the treatment of various diseases, including cancer, neurodegenerative disorders, and infectious diseases.
Receptors, Transferrin are proteins that are found on the surface of cells and are responsible for binding to the iron transport protein transferrin, which carries iron in the bloodstream. These receptors play a crucial role in regulating the uptake of iron by cells and are involved in a number of physiological processes, including the production of red blood cells and the maintenance of iron homeostasis in the body. In the medical field, the study of transferrin receptors is important for understanding the mechanisms of iron metabolism and for developing treatments for iron-related disorders, such as anemia and iron overload.
Membrane proteins are proteins that are embedded within the lipid bilayer of a cell membrane. They play a crucial role in regulating the movement of substances across the membrane, as well as in cell signaling and communication. There are several types of membrane proteins, including integral membrane proteins, which span the entire membrane, and peripheral membrane proteins, which are only in contact with one or both sides of the membrane. Membrane proteins can be classified based on their function, such as transporters, receptors, channels, and enzymes. They are important for many physiological processes, including nutrient uptake, waste elimination, and cell growth and division.
Antimicrobial cationic peptides (ACPs) are a class of naturally occurring peptides that have the ability to kill or inhibit the growth of microorganisms, such as bacteria, fungi, and viruses. They are characterized by their positive charge, which allows them to interact with the negatively charged cell membranes of microorganisms and disrupt their integrity, leading to cell death. ACPs are found in a variety of organisms, including plants, insects, and animals, and are often part of the innate immune system. They are also being studied for their potential use in the development of new antibiotics and antifungal agents, as well as for their potential therapeutic applications in the treatment of a range of infections and inflammatory diseases. Some examples of ACPs include defensins, cathelicidins, and histatins. These peptides are typically small, ranging in size from 10 to 50 amino acids, and are highly conserved across different species, suggesting that they have an important biological function.
Chelation therapy is a medical treatment that involves the administration of chelating agents, which are compounds that bind to and remove heavy metals and other toxic substances from the body. The goal of chelation therapy is to reduce the concentration of these toxic substances in the body and prevent further damage to tissues and organs. Chelation therapy is typically used to treat conditions caused by heavy metal toxicity, such as lead poisoning, mercury poisoning, and arsenic poisoning. It may also be used to treat certain types of cardiovascular disease, such as atherosclerosis, by removing plaque from the arteries. Chelation therapy is typically administered intravenously, although it may also be given orally in some cases. The treatment involves the administration of a chelating agent, followed by a saline solution to flush the chelating agent from the body. The frequency and duration of treatment will depend on the specific condition being treated and the severity of the toxicity. It is important to note that chelation therapy is not without risks and should only be performed under the supervision of a qualified healthcare professional. Some potential side effects of chelation therapy include nausea, vomiting, headache, and allergic reactions. In addition, chelation therapy may interact with certain medications and may not be appropriate for everyone.
Porphyria Cutanea Tarda (PCT) is a rare genetic disorder that affects the body's ability to produce heme, a protein that carries oxygen in red blood cells. PCT is caused by a deficiency in the enzyme uroporphyrinogen decarboxylase, which is necessary for the production of heme. The symptoms of PCT typically develop gradually over time and can include skin sensitivity to sunlight, abdominal pain, and neurological symptoms such as numbness, tingling, and muscle weakness. The most characteristic symptom of PCT is the development of purple or brown skin discoloration, particularly on the hands and feet, which can be painful and may lead to scarring. PCT is a chronic condition that can be difficult to manage, and treatment typically involves avoiding triggers that can worsen symptoms, such as sunlight and certain medications. In severe cases, treatment may involve blood transfusions or liver transplantation.
Iron metabolism disorders refer to a group of medical conditions that affect the body's ability to regulate the absorption, storage, and utilization of iron. Iron is an essential mineral that plays a crucial role in many bodily functions, including the production of red blood cells, energy metabolism, and immune function. Iron metabolism disorders can be classified into two main categories: iron deficiency and iron overload. Iron deficiency occurs when the body does not have enough iron to meet its needs, while iron overload occurs when there is too much iron in the body. Some common iron metabolism disorders include: 1. Iron deficiency anemia: A condition characterized by low levels of red blood cells or hemoglobin, which is caused by a lack of iron in the body. 2. Hemochromatosis: A genetic disorder that causes the body to absorb too much iron from the diet, leading to iron overload and damage to organs such as the liver, heart, and pancreas. 3. Thalassemia: A genetic disorder that affects the production of hemoglobin, leading to anemia and other complications. 4. sideroblastic anemia: A type of anemia caused by defects in the body's ability to produce red blood cells. 5. siderosis: A condition characterized by the accumulation of iron in tissues and organs, which can lead to organ damage and dysfunction. Treatment for iron metabolism disorders depends on the underlying cause and severity of the condition. It may involve dietary changes, iron supplements, or medications to manage symptoms and prevent complications. In severe cases, medical procedures such as phlebotomy (removal of blood) or liver transplantation may be necessary.
Cation transport proteins are a group of proteins that are responsible for transporting positively charged ions, such as sodium, potassium, calcium, and magnesium, across cell membranes. These proteins play a crucial role in maintaining the proper balance of ions inside and outside of cells, which is essential for many cellular processes, including nerve impulse transmission, muscle contraction, and the regulation of blood pressure. There are several types of cation transport proteins, including ion channels, ion pumps, and ion cotransporters. Ion channels are pore-forming proteins that allow ions to pass through the cell membrane in response to changes in voltage or other stimuli. Ion pumps are proteins that use energy from ATP to actively transport ions against their concentration gradient. Ion cotransporters are proteins that move two or more ions in the same direction, often in exchange for each other. Cation transport proteins can be found in many different types of cells and tissues throughout the body, and their dysfunction can lead to a variety of medical conditions, including hypertension, heart disease, neurological disorders, and kidney disease.
Hemosiderosis is a medical condition characterized by the accumulation of iron in various tissues and organs of the body. It occurs when there is an excessive amount of iron in the body, either due to an increased intake of iron or an inability to properly excrete it. There are two main types of hemosiderosis: primary and secondary. Primary hemosiderosis is a rare genetic disorder that affects the body's ability to transport and store iron. Secondary hemosiderosis, on the other hand, is caused by an underlying medical condition, such as chronic blood loss, hemochromatosis, or liver disease. Symptoms of hemosiderosis can vary depending on the affected organs and tissues. Common symptoms include fatigue, weakness, joint pain, skin pigmentation, and heart problems. In severe cases, hemosiderosis can lead to organ damage, such as liver cirrhosis, heart failure, and kidney failure. Treatment for hemosiderosis depends on the underlying cause and the severity of the condition. In some cases, iron chelation therapy may be used to remove excess iron from the body. Other treatments may include medications to manage symptoms, lifestyle changes, and in severe cases, surgery.
Iron radioisotopes are radioactive isotopes of iron that are used in medical imaging and treatment. These isotopes are typically produced by bombarding iron targets with high-energy particles, such as protons or neutrons. The resulting radioisotopes have a short half-life, meaning that they decay quickly and emit radiation that can be detected by medical imaging equipment. Iron radioisotopes are used in a variety of medical applications, including: 1. Diagnostic imaging: Iron radioisotopes can be used to create images of the body's organs and tissues. For example, iron-59 is often used to study the liver and spleen, while iron-62 is used to study the bone marrow. 2. Radiation therapy: Iron radioisotopes can also be used to treat certain types of cancer. For example, iron-59 is used to treat liver cancer, while iron-62 is used to treat multiple myeloma. 3. Research: Iron radioisotopes are also used in research to study the metabolism and distribution of iron in the body. Overall, iron radioisotopes play an important role in the diagnosis and treatment of various medical conditions, and are a valuable tool in the field of nuclear medicine.
Cytapheresis is a medical procedure that involves the separation of blood cells from a patient's blood. The goal of cytapheresis is to remove specific cells or components from the blood, such as white blood cells, platelets, or plasma, for therapeutic or diagnostic purposes. During cytapheresis, a machine called a cell separator is used to separate the blood cells from the plasma and other components. The separated cells or components are then collected and stored, while the remaining blood is returned to the patient. Cytapheresis is commonly used in the treatment of various medical conditions, including autoimmune disorders, blood cancers, and blood disorders such as thrombocytopenia (low platelet count) or leukopenia (low white blood cell count). It can also be used for the collection of stem cells for transplantation, as well as for the removal of harmful antibodies or other substances from the blood.
In the medical field, "Iron, Dietary" refers to the amount of iron that is obtained from food and beverages. Iron is an essential nutrient that plays a crucial role in the production of red blood cells, which carry oxygen throughout the body. The recommended daily intake of dietary iron varies depending on age, sex, and other factors. For example, adult men require 8.0 milligrams (mg) of iron per day, while adult women require 18.0 mg per day (assuming they are not pregnant or breastfeeding). Pregnant women require even more iron, up to 27.0 mg per day. A deficiency in dietary iron can lead to iron-deficiency anemia, a condition characterized by low levels of red blood cells and reduced oxygen-carrying capacity. Symptoms of iron-deficiency anemia may include fatigue, weakness, shortness of breath, and pale skin. To ensure adequate intake of dietary iron, it is important to consume a variety of iron-rich foods, such as red meat, poultry, fish, beans, lentils, tofu, and fortified cereals. It is also important to consume foods that are high in vitamin C, as vitamin C can enhance iron absorption.
Iron-binding proteins are a group of proteins that play a crucial role in the transport and storage of iron in the body. These proteins are responsible for binding to iron ions and facilitating their movement across cell membranes and into cells where they are needed for various metabolic processes. The most well-known iron-binding proteins are ferritin and transferrin. Ferritin is a protein that stores iron in the form of ferric oxide (Fe2O3) within cells. Transferrin, on the other hand, is a plasma protein that binds to iron ions in the bloodstream and transports them to cells where they are needed. Iron-binding proteins are essential for maintaining proper iron levels in the body. Iron is a vital nutrient that is required for the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. Iron is also necessary for the function of many enzymes involved in metabolism. Abnormalities in iron-binding proteins can lead to iron deficiency or iron overload, both of which can have serious health consequences. Iron deficiency can cause anemia, fatigue, and weakness, while iron overload can lead to organ damage and an increased risk of certain diseases, such as liver disease and cancer.
Chromosomes, Human, Pair 6 refers to the sixth pair of chromosomes in the human genome. Each pair of chromosomes contains a specific set of genes that are responsible for various traits and characteristics of an individual. Chromosome 6 is one of the largest human chromosomes, containing over 170 million base pairs of DNA and more than 1,000 genes. It is located on the long arm of the chromosome and is known to be involved in a variety of biological processes, including immune function, metabolism, and development. Mutations or abnormalities in chromosome 6 can lead to a range of genetic disorders, including some forms of cancer, developmental disorders, and immune system disorders.
GPI-linked proteins, also known as glycosylphosphatidylinositol (GPI)-anchored proteins, are a class of membrane proteins that are attached to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. The GPI anchor is a complex molecule that consists of a glycerol backbone, two phosphatidylcholine molecules, a mannose residue, and a phosphatidylinositol group. GPI-linked proteins are involved in a variety of cellular processes, including cell signaling, cell adhesion, and immune response. They are found on the surface of many different types of cells, including red blood cells, leukocytes, and neurons. GPI-linked proteins are important for the proper functioning of the immune system, as they play a role in the recognition and clearance of pathogens by immune cells. They are also involved in the regulation of cell growth and differentiation, and have been implicated in the development of certain diseases, including cancer and autoimmune disorders.
HLA-A antigens are a group of proteins that are expressed on the surface of cells in the human immune system. These proteins play a crucial role in the immune response by helping to identify and distinguish between "self" and "non-self" cells. HLA-A antigens are encoded by a group of genes located on chromosome 6, and there are many different variations of these antigens, each with a unique amino acid sequence. These variations, known as alleles, are responsible for the diversity of the HLA-A antigens that are expressed in the human population. HLA-A antigens are important for the proper functioning of the immune system, and they are also used in the field of transplantation to help match donors and recipients for organ and tissue transplants.
Metal metabolism, inborn errors refer to genetic disorders that affect the body's ability to properly regulate the absorption, distribution, metabolism, and excretion of essential metals such as iron, copper, zinc, and manganese. These metals play important roles in various biological processes, including energy production, DNA synthesis, and immune function. Inborn errors of metal metabolism can result in a range of clinical manifestations, depending on the specific metal affected and the severity of the disorder. For example, disorders of iron metabolism can cause anemia, fatigue, and developmental delays, while disorders of copper metabolism can cause neurological problems, liver disease, and skin pigmentation abnormalities. Diagnosis of inborn errors of metal metabolism typically involves a combination of clinical evaluation, laboratory testing, and genetic analysis. Treatment may involve dietary modifications, supplementation with the deficient metal, or chelation therapy to remove excess metal from the body. Early diagnosis and appropriate management are important to prevent or minimize the long-term consequences of these disorders.
Liver cirrhosis is a chronic liver disease characterized by the replacement of healthy liver tissue with scar tissue, leading to a loss of liver function. This scarring, or fibrosis, is caused by a variety of factors, including chronic alcohol abuse, viral hepatitis, non-alcoholic fatty liver disease, and autoimmune liver diseases. As the liver becomes increasingly damaged, it becomes less able to perform its many functions, such as filtering toxins from the blood, producing bile to aid in digestion, and regulating blood sugar levels. This can lead to a range of symptoms, including fatigue, weakness, abdominal pain, jaundice, and confusion. In advanced cases, liver cirrhosis can lead to liver failure, which can be life-threatening. Treatment options for liver cirrhosis depend on the underlying cause and may include lifestyle changes, medications, and in some cases, liver transplantation.
Deferoxamine is a medication used to treat iron overload, a condition in which there is too much iron in the body. It works by binding to iron in the blood and removing it from the body through the kidneys. Deferoxamine is typically administered as an intravenous infusion and is used to treat conditions such as thalassemia, sickle cell anemia, and hemochromatosis. It may also be used to prevent iron overload in people who receive frequent blood transfusions. Deferoxamine can cause side effects such as nausea, vomiting, and low blood pressure.
Beta 2-Microglobulin (β2M) is a small protein that is produced by most cells in the body, including immune cells such as T cells and B cells. It is a component of the major histocompatibility complex (MHC) class I molecules, which are found on the surface of most cells and are responsible for presenting antigens (foreign substances) to the immune system. In the medical field, β2M is often used as a marker of kidney function. High levels of β2M in the blood can indicate kidney damage or failure, as the kidneys are responsible for removing β2M from the bloodstream. In addition, high levels of β2M have been associated with an increased risk of certain types of cancer, including multiple myeloma and prostate cancer. β2M is also used as a diagnostic tool in the laboratory to help identify and monitor certain diseases and conditions, such as multiple myeloma, autoimmune disorders, and viral infections. It is also used as a component of some types of cancer treatments, such as immunotherapy.
Liver diseases refer to a wide range of medical conditions that affect the liver, which is a vital organ responsible for many essential functions in the body. These diseases can be caused by various factors, including viral infections, alcohol abuse, drug toxicity, autoimmune disorders, genetic mutations, and metabolic disorders. Some common liver diseases include: 1. Hepatitis: An inflammation of the liver caused by a viral infection, such as hepatitis A, B, or C. 2. Cirrhosis: A chronic liver disease characterized by the scarring and hardening of liver tissue, which can lead to liver failure. 3. Non-alcoholic fatty liver disease (NAFLD): A condition in which excess fat accumulates in the liver, often as a result of obesity, insulin resistance, or a high-fat diet. 4. Alcoholic liver disease (ALD): A group of liver diseases caused by excessive alcohol consumption, including fatty liver, alcoholic hepatitis, and cirrhosis. 5. Primary biliary cholangitis (PBC): A chronic autoimmune liver disease that affects the bile ducts in the liver. 6. Primary sclerosing cholangitis (PSC): A chronic autoimmune liver disease that affects the bile ducts in the liver and can lead to cirrhosis. 7. Wilson's disease: A genetic disorder that causes copper to accumulate in the liver and other organs, leading to liver damage and other health problems. 8. Hemochromatosis: A genetic disorder that causes the body to absorb too much iron, leading to iron overload in the liver and other organs. Treatment for liver diseases depends on the underlying cause and severity of the condition. In some cases, lifestyle changes such as diet and exercise may be sufficient to manage the disease. In more severe cases, medications, surgery, or liver transplantation may be necessary.
Bone Morphogenetic Protein 6 (BMP6) is a protein that plays a crucial role in bone development and repair. It is a member of the transforming growth factor-beta (TGF-β) superfamily of proteins, which are involved in a wide range of cellular processes, including cell proliferation, differentiation, and migration. In the medical field, BMP6 is used as a therapeutic agent to promote bone growth and repair in various conditions, such as non-unions, spinal fusion, and osteoporosis. It is also being studied for its potential use in tissue engineering and regenerative medicine. BMP6 is produced by a variety of cells, including osteoblasts (bone-forming cells) and chondrocytes (cartilage-forming cells). It acts by binding to specific receptors on the surface of target cells, triggering a signaling cascade that leads to the activation of various genes involved in bone formation and repair. Overall, BMP6 is a promising therapeutic agent for the treatment of bone-related diseases and injuries, and ongoing research is aimed at optimizing its use and understanding its mechanisms of action.
Anemia, dyserythropoietic, congenital is a rare genetic disorder that affects the production of red blood cells in the bone marrow. It is characterized by abnormal development of red blood cells, leading to a deficiency in the number of red blood cells in the body. This can cause symptoms such as fatigue, weakness, shortness of breath, and pale skin. The condition is usually diagnosed in infancy or early childhood and is caused by mutations in genes that are involved in the development and maturation of red blood cells. Treatment may involve regular blood transfusions and medications to stimulate the production of red blood cells.
Beta-thalassemia is a genetic blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. In people with beta-thalassemia, the beta globin chain of hemoglobin is either not produced at all or is produced in reduced amounts, leading to a deficiency in the overall amount of hemoglobin in the blood. There are two main types of beta-thalassemia: beta-thalassemia major and beta-thalassemia intermedia. Beta-thalassemia major is a more severe form of the disorder, characterized by severe anemia, jaundice, and enlarged liver and spleen. People with beta-thalassemia major may require regular blood transfusions and iron chelation therapy to manage their symptoms. Beta-thalassemia intermedia is a less severe form of the disorder, characterized by milder anemia and fewer symptoms. However, people with beta-thalassemia intermedia may still require occasional blood transfusions and iron chelation therapy to manage their symptoms. Beta-thalassemia is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder. It is most common in people of Mediterranean, Middle Eastern, Southeast Asian, and African descent.
Uroporphyrinogen decarboxylase (UROD) is an enzyme that plays a crucial role in the heme biosynthesis pathway. It catalyzes the decarboxylation of uroporphyrinogen III to form coproporphyrinogen III, which is a precursor in the synthesis of heme, a vital component of hemoglobin, myoglobin, and other heme proteins. Heme is essential for the transport of oxygen in the body, and its deficiency can lead to various health problems, including anemia, jaundice, and neurological disorders. UROD deficiency is a rare genetic disorder that results in a deficiency of heme and can cause severe anemia, jaundice, and other symptoms. In the medical field, UROD deficiency is diagnosed through genetic testing and treated with heme supplementation. Understanding the role of UROD in heme biosynthesis is important for the development of new treatments for heme deficiency disorders.
Bloodletting is an ancient medical practice that involves the removal of blood from a patient's body, typically through a cut or puncture, in the belief that it can help to balance the body's "humors" and treat a variety of illnesses and conditions. The practice was widely used in Western medicine for centuries, but its use declined in the 19th century with the development of more effective and humane medical treatments. Today, bloodletting is no longer considered a valid medical practice and is not used in modern medicine.
Siderosis is a medical term that refers to the accumulation of iron in the body, particularly in tissues and organs. It can occur due to various reasons, including excessive intake of iron, blood transfusions, or genetic disorders that affect iron metabolism. In the liver, excessive iron accumulation can lead to liver damage and cirrhosis. In the heart, it can cause heart failure and arrhythmias. In the brain, it can lead to neurodegenerative disorders such as Parkinson's disease and dementia. Siderosis can also affect other organs such as the pancreas, spleen, and joints, leading to various complications. Treatment for siderosis depends on the underlying cause and severity of the condition, and may include medications to reduce iron absorption, iron chelation therapy, or surgery to remove excess iron from the body.
Hemochromatosis type 4
Haemochromatosis type 3
HFE H63D gene mutation
African iron overload
Reference ranges for blood tests
Alcoholic liver disease
List of OMIM disorder codes
Glossary of diabetes
Congenital dyserythropoietic anemia
Hereditary Hemochromatosis | CDC
Neonatal hemochromatosis - Wikipedia
Hemochromatosis: MedlinePlus Medical Encyclopedia
Hemochromatosis: Practice Essentials, Background, Pathophysiology
New Guidelines to Help You Manage Hereditary Hemochromatosis
Hemochromatosis Treatment & Management: Approach Considerations, Surgical Intervention, Phlebotomy
Hemochromatosis - WellSpan Health Library
Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population
Haemochromatosis Archives - Dark Daily
Hemochromatosis and driving - Fundación MAPFRE
Hereditary haemochromatosis - YourGenome
Neonatal Hemochromatosis: Background, Pathophysiology, Etiology
Exercise as it relates to Disease/Exercise tolerance with Hemochromatosis - Wikibooks, open books for an open world
Iron Chelation with Deferasirox in Two Patients with HFE Hemochromatosis and Chronic Anemia | Acta Haematologica | Karger...
Hemochromatosis: Care Instructions
SciELO - Brazil - Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's...
Hemochromatosis - Blood Disorders - MSD Manual Consumer Version
Hemochromatosis - Blood Disorders - MSD Manual Consumer Version
HEMOCHROMATOSIS - pediagenosis
Neonatal Hemochromatosis Differential Diagnoses
Returns - Hemochromatosis DNA
Neonatal Hemochromatosis: Background, Pathophysiology, Etiology
Hemochromatosis Recipes | Hemochromatosis Help
Events | Canadian Hemochromatosis Society
Hemochromatosis: More Common Than You Think?
Hemochromatosis - ADH Jersey Shore Gastroenterology
- This mutation does not cause the iron overload by itself, and patients with it do not need to be monitored for primary hemochromatosis consequences. (medscape.com)
- Primary Hemochromatosis is an autosomal recessive genetic disease, meaning a child must inherit a mutated HFE gene from both parents to develop the disease. (wikibooks.org)
- There are a number of other gene mutations that cause symptoms similar to Primary Hemochromatosis known as non-HFE Hemochromatosis. (wikibooks.org)
- This condition is called primary Hemochromatosis. (targetwoman.com)
- Primary hemochromatosis is genetic, stemming from problems in the DNA of both parents. (jerseyshoregastro.com)
- Infiltrative diseases such as sarcoidosis or amyloidosis, and rare genetic diseases such as Wilson disease, primary hemochromatosis, and alpha-1-antitrypsin deficiency, must be excluded. (cdc.gov)
Types of hemochromatosis2
- Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy. (medlineplus.gov)
- Once diagnosed, hemochromatosis is treated by phlebotomy to rid the body of excess iron and to maintain normal iron stores. (medscape.com)
- Phlebotomy remains the sole recommended treatment for hereditary hemochromatosis and should be undertaken in a case-specific manner. (medscape.com)
- A Cochrane database review of interventions for hereditary hemochromatosis found that phlebotomy remained the treatment of choice in those with hereditary hemochromatosis who required blood letting, but no data from randomized trials provided evidence of benefit from any form of blood letting in these patients. (medscape.com)
- The AASLD guidelines state hereditary hemochromatosis patients who have evidence of iron overload are "strongly encouraged" to receive phlebotomy regularly until iron stores are depleted. (medscape.com)
- Treatment of hemochromatosis type 2 usually involves reducing iron levels by removing blood ( phlebotomy ) or iron chelation . (rareguru.com)
- Treatment for hemochromatosis type 2 may include reducing iron levels by removing blood ( phlebotomy ), iron chelation therapy , dietary changes, and treatment for complications of the disease. (rareguru.com)
- Early symptoms of hemochromatosis, such as feeling tired or weak, are common and can cause it to be confused with a variety of other diseases. (cdc.gov)
- However, most people with hereditary hemochromatosis never develop symptoms or complications. (cdc.gov)
- Contact your provider if symptoms of hemochromatosis develop. (medlineplus.gov)
- Patients with hereditary hemochromatosis may be asymptomatic (75%) or may present with general and organ-related signs and symptoms. (medscape.com)
- Most people with hemochromatosis notice symptoms when they are age 40 to 60. (wellspan.org)
- Hemochromatosis shares a lot of symptoms with other common diseases. (wikibooks.org)
- The symptoms and effects of hemochromatosis may limit exercise tolerance. (wikibooks.org)
- Those of European descent may choose to be tested for the hemochromatosis gene mutation to enable quicker diagnosis if symptoms develop. (wikibooks.org)
- Symptoms of hemochromatosis often do not appear until a person is 40 to 60 years old. (alberta.ca)
- Other symptoms of Hemochromatosis are loss of body hair and darkening of skin. (targetwoman.com)
- What Are Hemochromatosis Symptoms? (jerseyshoregastro.com)
- Symptoms of hemochromatosis type 2 typically begin during childhood. (rareguru.com)
- Early symptoms of hemochromatosis type 2 typically include liver disease , heart disease , and low levels of sex hormones. (rareguru.com)
- A diagnosis of hemochromatosis type 2 is suspected when a doctor observes signs and symptoms of the disease. (rareguru.com)
- Carriers typically do not have signs or symptoms of hemochromatosis type 2. (rareguru.com)
- This panel is designed for individuals with a family history of hemochromatosis or individuals with symptoms of the condition, such as fatigue, joint pain, and abdominal pain. (dantelabs.com)
People with hemochromatosis4
- People with hemochromatosis have higher levels of iron in their blood. (crozerhealth.org)
- People with hemochromatosis type 2 may have heart disease by age 30. (rareguru.com)
- This means that people with hemochromatosis type 2 have a genetic change ( mutation or pathogenic variant) in both copies of the HFE2 __ ( HJV ) or HAMP genes in each cell of the body. (rareguru.com)
- Iron chelation therapy may be recommended for some people with hemochromatosis type 2 if they have other health issues. (rareguru.com)
- Other genetic mutations involved in iron homeostasis, which account for most of the remaining patients with inherited disorders of iron overload, include juvenile hemochromatosis (type 2), transferrin receptor 2 disease (type 3 hemochromatosis), and ferroportin disease (type 4 hemochromatosis). (medscape.com)
- Type 1 hemochromatosis results from reduced hepcidin expression and increased iron absorption, exceeding the capacity of transferrin to transport iron. (medscape.com)
- Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests that it may be alloimmune condition. (wikipedia.org)
- The causes of neonatal hemochromatosis are still unknown, but recent research has led to the hypothesis that it is an alloimmune disease. (wikipedia.org)
- This evidence along with other research indicates that neonatal hemochromatosis could be classified as a congenital alloimmune hepatitis. (wikipedia.org)
- Based on the alloimmune cause hypothesis, a new treatment involving high-dose immunoglobulin to pregnant mothers who have had a previous pregnancy with a confirmed neonatal hemochromatosis outcome, has provided very encouraging results. (wikipedia.org)
- Neonatal hemochromatosis is a syndrome in which severe liver disease of fetal or perinatal onset is associated with deposition of stainable iron in extrahepatic sites. (medscape.com)
- Nonetheless, neonatal hemochromatosis is not a manifestation of HFE disease. (medscape.com)
- Neonatal hemochromatosis is not a single disorder but is a syndrome with an unclear etiology. (medscape.com)
- Suggest genetic counseling if the parents of a child with neonatal hemochromatosis desire to have another child. (medscape.com)
- The exact cause of neonatal hemochromatosis is unknown. (medscape.com)
- Four pieces of evidence suggest that neonatal hemochromatosis may be due to an acquired and persistent maternal factor. (medscape.com)
- First, neonatal hemochromatosis recurs within sibships at a rate higher than expected for disorders transmitted in an autosomal recessive manner. (medscape.com)
- Second, several kindreds are known in which mothers have given birth to children with neonatal hemochromatosis who were fathered by different men. (medscape.com)
- Third, several kindreds are known in which parents of children with neonatal hemochromatosis had histories of exposure to blood with or without clinical hepatitis. (medscape.com)
- Fourth, anecdotal evidence suggests that administering intravenous immunoglobulin during pregnancy in a woman who has already had an infant with neonatal hemochromatosis leads to a relatively favorable outcome. (medscape.com)
- These data suggest mitochondrial disease, transplacental transmission of an infective (possibly viral) agent, or transplacental transmission of an antibody as a cause of at least some instances of neonatal hemochromatosis. (medscape.com)
- Because neonatal hemochromatosis is a syndrome, any of these possibilities may be correct in a given family, and all of them must be considered. (medscape.com)
- Neonatal hemochromatosis is rare. (medscape.com)
- When liver failure is diagnosed in the first 1-2 days of life, neonatal hemochromatosis is by far the most common diagnosis. (medscape.com)
- Failure to diagnose neonatal hemochromatosis, resulting in the family having subsequent children with the same diagnosis, could result in legal actions against the physician. (medscape.com)
- Adams PC, Searle J. Neonatal hemochromatosis: a case and review of the literature. (medscape.com)
- Familial neonatal hemochromatosis with survival. (medscape.com)
- Gestational alloimmune liver disease and neonatal hemochromatosis. (medscape.com)
- Neonatal hemochromatosis [in French]. (medscape.com)
- Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. (medscape.com)
- Babor F, Hadzik B, Stannigel H, Mayatepek E, Hoehn T. Successful management of neonatal hemochromatosis by exchange transfusion and immunoglobulin: a case report. (medscape.com)
- Neonatal hemochromatosis: fetal liver disease leading to liver failure in the fetus and newborn. (medscape.com)
- Neonatal hemochromatosis has been documented in Filipino, African American, Hong Kong Chinese, and white infants. (medscape.com)
- The genetic abnormalities leading to hemochromatosis are driven by the C282Y gene mutation. (medscape.com)
- Patients who are C282Y/H63D compound heterozygous do not need to be monitored for hemochromatosis consequences. (medscape.com)
- Despite advances in the molecular understanding of hemochromatosis and the impact of C282Y on diagnosis, treatment remains simple, inexpensive, and safe. (medscape.com)
- A New Public Health Assessment of the Disease Burden of Hereditary Hemochromatosis: How Clinically Actionable is C282Y Homozygosity? (cdc.gov)
- To investigate the prevalence in the Michigan non-Hispanic Caucasian population of the C282Y, H63D and S65C mutations in the HFE gene associated with hereditary hemochromatosis. (nih.gov)
- The principal mutation accounting for type 1 HFE hemochromatosis is a substitution of tyrosine for cysteine at position 282 on chromosome 6, resulting in a mutation designated as C282Y. (medscape.com)
- [ 2 ] Homozygous C282Y hemochromatosis is the cause of 85%-90% of cases of iron overload. (medscape.com)
Common form of hemochromatosis2
- The most common form of hemochromatosis is passed down through the genes in families. (wellspan.org)
- [ 1 ] The distribution of extrahepatic iron mimics that observed in hepatic iron ( HFE ) disease, the most common form of hemochromatosis known in Europe and the Americas, and liver disease is common in late-stage HFE disease. (medscape.com)
Family history of hemochromatosis1
- Affected people with or without a known family history of hemochromatosis can be diagnosed through blood tests for iron followed by genetic testing if they are symptomatic or have complications. (cdc.gov)
Mutations in the HFE gene1
- Hereditary hemochromatosis (HH) attributable to mutations in the HFE gene is the most common autosomal recessive disorder among adults of northern European origin. (cdc.gov)
Diagnosis of hemochromatosis2
Patient with hemochromatosis2
- Cochrane Abstracts , Evidence Central , evidence.unboundmedicine.com/evidence/view/Cochrane/435907/all/Interventions_for_hereditary_haemochromatosis. (unboundmedicine.com)
Autosomal recessive genetic1
- Hemochromatosis is a fairly common autosomal recessive genetic disorder of iron metabolism that leads to excessive iron absorption and eventually iron overload. (pediagenosis.com)
- Cardiac manifestations of hereditary hemochromatosis could have sudden onset and could be poorly responsive to therapy. (medscape.com)
- Go to Hemochromatosis and Dermatologic Manifestations of Hemochromatosis for complete information on these topics. (medscape.com)
- The clinical manifestations of hemochromatosis patients who are homozygous for the mutated HFE gene can be quite variable. (pediagenosis.com)
Known as iron overload1
- This Hemochromatosis which is known as iron overload, bronze diabetes, hereditary Hemochromatosis and familial Hemochromatosis. (targetwoman.com)
- Most patients are asymptomatic and are diagnosed when elevated serum iron levels are noted on a routine chemistry screening panel or when screening is performed because a relative is diagnosed with hemochromatosis. (medscape.com)
- Chest radiography and echocardiography may be helpful in the evaluation of patients with hemochromatosis and cardiac disease. (medscape.com)
- The use of liver biopsy in hereditary hemochromatosis can be restricted to those patients with a high probability of severe fibrosis or cirrhosis. (medscape.com)
- The guidelines recommend that patients with hemochromatosis minimize vitamin C exposure, particularly supplemental vitamin C, which may accelerate iron absorption. (medscape.com)
- The guidelines recommend not placing patients on PPIs proactively as the primary treatment for hemochromatosis, but if they need PPIs for other reasons, it's certainly justifiable and can be done. (medscape.com)
- We present 2 patients with hyperferritinemia, increased liver iron and hemochromatosis-associated HFE genotypes. (karger.com)
- As it is an autosomal recessive condition, siblings of the Hemochromatosis patients are at 25% risk to be affected as well. (targetwoman.com)
- Patients suffering from Haemochromatosis must limit the consumption of iron. (targetwoman.com)
- It is the intestines' job to absorb iron, but in patients with hemochromatosis, too much iron is absorbed, and it begins to build up in vital organs, such as the pancreas, liver, and heart. (jerseyshoregastro.com)
- Connect with other caregivers and patients with Hemochromatosis type 2 and get the support you need. (rareguru.com)
Caused by mutations2
- The condition is sometimes confused with juvenile hemochromatosis, which is a hereditary hemochromatosis caused by mutations of a gene called hemojuvelin. (wikipedia.org)
- Hemochromatosis is caused by mutations in genes involved in iron metabolism and regulation, and this panel tests for genetic variants that are known to affect these processes. (dantelabs.com)
- Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems. (cdc.gov)
- An estimated 9% (about 1 in 10) of men with hereditary hemochromatosis will develop severe liver disease. (cdc.gov)
- Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives. (medlineplus.gov)
- Surgical procedures are used to treat two important complications of hemochromatosis: end-stage liver disease and severe arthropathy. (medscape.com)
- A person may develop acquired hemochromatosis from having many blood transfusions, certain blood disorders (such as thalassemia), or chronic liver disease or from taking excessive or unnecessary iron supplements. (wellspan.org)
- Hemochromatosis is a disease that causes the body to absorb more Iron than it needs. (wikibooks.org)
- Hemochromatosis is a disease that can be passed from a parent to a child (inherited). (alberta.ca)
- Hemochromatosis is a hereditary metabolic disease that affects up to one million Americans. (crozerhealth.org)
- A family history of liver disease, arthritis, diabetes, erectile dysfunction, and heart attacks can increase the risk of developing hemochromatosis. (jerseyshoregastro.com)
- Hemochromatosis type 2 is a disease in which too much iron builds up in the body. (rareguru.com)
- Caroline Martin talks about her story and her haemochromatosis journey with the Irish Daily Star, Chic magazine for World Haemochromatosis Awareness Week 2023. (haemochromatosis.ie)
Organs and tissues2
- Its characteristics are similar to hereditary hemochromatosis, where iron deposition causes damage to the liver and other organs and tissues. (wikipedia.org)
- Hemochromatosis is a condition in which the body absorbs too much iron from food, leading to iron overload in organs and tissues. (dantelabs.com)
- Another genetic subtype of hemochromatosis is the H63D gene mutation, which you see on your genetic profiles. (medscape.com)
- But as a general rule, the H63D gene mutation does not cause the genetic consequence of hemochromatosis. (medscape.com)
- Type 1 hemochromatosis involves mutation of the HFE (homeostatic iron regulator) gene. (msdmanuals.com)
- Most cases are caused by a genetic mutation in the hemochromatosis gene, HFE . (pediagenosis.com)
- Hereditary Hemochromatosis (HH) is an inherited iron storage disorder in which the body builds up too much iron, damaging tissues and organs. (cdc.gov)
- Men with hereditary hemochromatosis are more likely to develop complications and often at an earlier age. (cdc.gov)
- How can you prevent complications from hemochromatosis? (cdc.gov)
- The earlier hemochromatosis is diagnosed, the less likely you are to develop serious complications-many of which can cause permanent problems. (cdc.gov)
- The condition is often genetic, so there are no preventive measures for hemochromatosis, but if it is detected early, it can be treated before serious complications arise. (jerseyshoregastro.com)
Causes the body to absorb2
- Hemochromatosis is a hereditary disorder that causes the body to absorb too much iron, causing iron to build up in the body and damage organs. (msdmanuals.com)
- Haemochromatosis (or 'iron overload') is an inherited disorder which causes the body to absorb too much iron from the diet. (haemochromatosis.ie)
- Hereditary hemochromatosis requires treatment throughout a person's life. (wellspan.org)
- Clinical suspicion and early diagnosis are essential in hemochromatosis. (medscape.com)
- In preparing for my discussion with him, I had a valuable resource at hand in the recently published clinical guideline on hereditary hemochromatosis from the American College of Gastroenterology, authored by Dr Kris Kowdley and colleagues. (medscape.com)
- A blood test can be used to screen people who may have hemochromatosis by measuring how much iron is in their blood. (cdc.gov)
- If you are diagnosed with hemochromatosis, regularly scheduled blood removal is the most effective way to lower the amount of iron in your body. (cdc.gov)
- This blood test looks for the gene changes that cause hereditary hemochromatosis. (crozerhealth.org)
- Secondary Hemochromatosis occurs when abnormal red blood cells in the body are destroyed and iron is released. (targetwoman.com)
- Hemochromatosis is diagnosed through blood tests and liver biopsy. (targetwoman.com)
Disorder in which the body1
- Hemochromatosis is a disorder in which the body can build up too much iron in the skin, heart, liver, pancreas, pituitary gland, and joints. (cdc.gov)
- Between 1/200 and 1/400 individuals have two abnormal genes for Hemochromatosis and no normal gene. (targetwoman.com)
- Hemochromatosis type 2 is caused by genetic changes (mutations or pathogenic variants) to the HFE2 ( HJV) or HAMP __ genes. (rareguru.com)
- Hemochromatosis type 2 is caused by genetic changes ( mutations or pathogenic variants) in the HFE2 __ (also known as HJV) or HAMP genes . (rareguru.com)
- Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. (medscape.com)
- Approximately one in 9 persons have one abnormal Hemochromatosis gene which works out to 11% of the US population. (targetwoman.com)
- Haemochromatosis can lead to heart failure or abnormal heart rhythms. (targetwoman.com)
- Hemochromatosis may be a genetic disorder passed down through families. (medlineplus.gov)
- The physician will indicate the added risks caused by hemochromatosis when driving, and the favorable or stable evolution that in each case permits driving. (fundacionmapfre.org)
- Sign-up today for in-depth and empowering articles with actionable tips to assist you on your journey with hemochromatosis! (hemochromatosishelp.com)