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HFE Hereditary Haemochromatosis
Hereditary haemochromatosis type 1 (HFE-related Hemochromatosis) is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores. Humans, like most animals, have no means to excrete excess iron, with the exception of menstruation which, for the average woman, results in a loss of 3.2 mg of iron. Excess iron accumulates in tissues and organs, disrupting their normal function. The most susceptible organs include the liver, heart, pancreas, skin, joints, gonads, thyroid and pituitary gland; patients can present with cirrhosis, polyarthropathy, hypogonadism, heart failure, or diabetes.https://www.cdc.gov/genomics/disease/hemochromatosis.htm. Centers for Disease Control and Prevention There are 5 types of hereditary hemochromatosis: type 1, 2 (2A, 2B), 3, 4 and 5, all caused by mutated genes. Hereditary hemochromatosis is the most frequent, and unique related to the HFE gene. It is most co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prussian Blue
Prussian blue (also known as Berlin blue, Brandenburg blue or, in painting, Parisian or Paris blue) is a dark blue pigment produced by oxidation of ferrous ferrocyanide salts. It has the chemical formula Fe CN)">Cyanide.html" ;"title="e(Cyanide">CN) Turnbull's blue is chemically identical, but is made from different reagents, and its slightly different color stems from different impurities and particle sizes. Prussian blue was the first modern synthetic pigment. It is prepared as a very fine colloidal dispersion, because the compound is not soluble in water. It contains variable amounts of other ions and its appearance depends sensitively on the size of the colloidal particles. The pigment is used in paints, and it is the traditional "blue" in blueprints, and became prominent in 19th-century () Japanese woodblock prints. In medicine, orally administered Prussian blue is used as an antidote for certain kinds of heavy metal poisoning, e.g., by thallium(I) and radioactive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polyarthropathy
Arthritis is a term often used to mean any disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, swelling, and decreased range of motion of the affected joints. In some types of arthritis, other organs are also affected. Onset can be gradual or sudden. There are over 100 types of arthritis. The most common forms are osteoarthritis (degenerative joint disease) and rheumatoid arthritis. Osteoarthritis usually occurs with age and affects the fingers, knees, and hips. Rheumatoid arthritis is an autoimmune disorder that often affects the hands and feet. Other types include gout, lupus, fibromyalgia, and septic arthritis. They are all types of rheumatic disease. Treatment may include resting the joint and alternating between applying ice and heat. Weight loss and exercise may also be useful. Recommended medications may depend on the form of arthritis. These may include pain medications such as ibuprofen and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pain
Pain is a distressing feeling often caused by intense or damaging stimuli. The International Association for the Study of Pain defines pain as "an unpleasant sensory and emotional experience associated with, or resembling that associated with, actual or potential tissue damage." In medical diagnosis, pain is regarded as a symptom of an underlying condition. Pain motivates the individual to withdraw from damaging situations, to protect a damaged body part while it heals, and to avoid similar experiences in the future. Most pain resolves once the noxious stimulus is removed and the body has healed, but it may persist despite removal of the stimulus and apparent healing of the body. Sometimes pain arises in the absence of any detectable stimulus, damage or disease. Pain is the most common reason for physician consultation in most developed countries. It is a major symptom in many medical conditions, and can interfere with a person's quality of life and general functioning. Simp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malaise
As a medical term, malaise is a feeling of general discomfort, uneasiness or lack of wellbeing and often the first sign of an infection or other disease. The word has existed in French since at least the 12th century. The term is often used figuratively in other contexts, in addition to its meaning as a general state of angst or melancholy. Cause Malaise is a non-specific symptom and can be present in the slightest ailment, such as an emotion (causing fainting, a vasovagal response) or hunger (light hypoglycemia), to the most serious conditions (cancer, stroke, heart attack, internal bleeding, etc.). Malaise expresses a patient's uneasiness that "something is not right" that may need a medical examination to determine the significance. Malaise is thought to be caused by the activation of an immune response, and the associated pro-inflammatory cytokines. Figurative use " Economic malaise" refers to an economy that is stagnant or in recession (compare depression). T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fatigue (medical)
Fatigue describes a state of tiredness that does not resolve with rest or sleep. In general usage, fatigue is synonymous with extreme tiredness or exhaustion that normally follows prolonged physical or mental activity. When it does not resolve after rest or sleep, or occurs independently of physical or mental exertion, it may be a symptom of a medical condition that may become severe or progressive. Fatigue can be a feature of a mental disorder such as depression; may be associated with conditions of chronic pain such as fibromyalgia; it may also feature in conditions of chronic low-level inflammation, and be a disease-related symptom in many other conditions. Fatigue often has no known cause, and is recognised as being very complex in nature. Fatigability describes a susceptibility to fatigue. Physical fatigue results from muscle fatigue brought about by intense physical activity. Mental fatigue results from prolonged periods of cognitive activity which impairs cognitive ab ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protean
In Greek mythology, Proteus (; Ancient Greek: Πρωτεύς, ''Prōteus'') is an early prophetic sea-god or god of rivers and oceanic bodies of water, one of several deities whom Homer calls the " Old Man of the Sea" ''(hálios gérôn)''. Some who ascribe a specific domain to Proteus call him the god of "elusive sea change", which suggests the constantly changing nature of the sea or the liquid quality of water. He can foretell the future, but, in a mytheme familiar to several cultures, will change his shape to avoid doing so; he answers only to those who are capable of capturing him. From this feature of Proteus comes the adjective protean, meaning "versatile", "mutable", or "capable of assuming many forms". "Protean" has positive connotations of flexibility, versatility and adaptability. Name origin Proteus' name suggests the "first" (from Greek "πρῶτος" ''prōtos'', "first"), as ''prōtogonos'' (πρωτόγονος) is the "primordial" or the "firstborn". It ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hereditary Carrier
A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait. Carriers in autosomal inheritances Autosomal dominant-recessive inheritance is made possible by the fact that the individuals of most species (including all higher animals and plants) have two alleles of most hereditary predispositions because the chromosomes in the cell nucleus are usually present in pairs ( diploid). Carriers can be female or male as the autosomes are homologous independently from the sex. In carriers the expression of a certain characteristic is recessive. The individual has both a genetic predisposition for the dominant trait and a genetic predisposition for the recessive trait, and the dominant expression prevails in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Celt
The Celts (, see pronunciation for different usages) or Celtic peoples () are. "CELTS location: Greater Europe time period: Second millennium B.C.E. to present ancestry: Celtic a collection of Indo-European peoples. "The Celts, an ancient Indo-European people, reached the apogee of their influence and territorial expansion during the 4th century bc, extending across the length of Europe from Britain to Asia Minor."; . " e Celts, were Indo-Europeans, a fact that explains a certain compatibility between Celtic, Roman, and Germanic mythology."; . "The Celts and Germans were two Indo-European groups whose civilizations had some common characteristics."; . "Celts and Germans were of course derived from the same Indo-European stock."; . "Celt, also spelled Kelt, Latin Celta, plural Celtae, a member of an early Indo-European people who from the 2nd millennium bce to the 1st century bce spread over much of Europe."; in Europe and Anatolia, identified by their use of Celtic languages ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HFE Gene
Human homeostatic iron regulator protein, also known as the HFE protein (High FE2+), is a protein which in humans is encoded by the ''HFE'' gene. The ''HFE'' gene is located on short arm of chromosome 6 at location 6p22.2 Function The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta-2 microglobulin (beta2M). It is thought that this protein functions to regulate circulating iron uptake by regulating the interaction of the transferrin receptor with transferrin. The ''HFE'' gene contains 7 exons spanning 12 kb. The full-length transcript represents 6 exons. HFE protein is composed of 343 amino acids. There are several components, in sequence: a signal peptide (initial part of the protein), an extracellular transferrin receptor-binding region (α1 and α2), a portion that resembles immunoglobulin molecules (α3), a transmembrane region that anchors the protein in the cell membrane, and a short cytoplasmic ta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haemochromatosis Type 4
Hemochromatosis type 4 is a hereditary iron overload disorder that affects ferroportin, an iron transport protein needed to export iron from cells into circulation. Although the disease is rare, it is found throughout the world and affects people from various ethnic groups. While the majority of individuals with type 4 hemochromatosis have a relatively mild form of the disease, some affected individuals have a more severe form. As the disease progresses, iron may accumulate in the tissues of affected individuals over time, potentially resulting in organ damage. Signs and symptoms Symptoms vary greatly between individuals with type 4 hemochromatosis. This difference in symptoms is likely due to the different types of SLC40A1 mutations patients may have. In general, signs and symptoms of type 4 hemochromatosis are caused by excess iron in cells, which leads to tissue damage. The damage is largely due to iron-catalyzed oxidative reactions. Iron can exchange electrons with a variety ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haemochromatosis Type 3
Haemochromatosis type 3 is a type of iron overload disorder associated with deficiencies in transferrin receptor 2. It exhibits an autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ... inheritance pattern. The first confirmed case was diagnosed in 1865 by French doctor Trousseau. Later in 1889, the German doctor von Recklinghausen indicated that the liver contains iron, and due to bleeding being considered to be the cause, he called the pigment "Haemochromatosis." In 1935, English doctor Sheldon's groundbreaking book titled, ''Haemochromatosis,'' reviewed 311 patient case reports and presented the idea that haemochromatosis was a congenital metabolic disorder. Hereditary haemochromatosis is a congenital disorder which affects the regulation of iron metabolism thus cau ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Juvenile Hemochromatosis
Juvenile hemochromatosis, also known as hemochromatosis type 2, is a rare form of hereditary hemochromatosis, which emerges in young individuals, typically between 15 and 30 years of age, but occasionally later. It is characterized by an inability to control how much iron is absorbed by the body, in turn leading to iron overload, where excess iron accumulates in many areas of the body and causes damage to the places it accumulates. It is a genetic disorder that can be caused by mutations in either the HJV (also called HFE2) or HAMP genes, and is inherited in an autosomal recessive fashion. Depending on which of these genes is affected, the disease can be further subdivided into types 2A and 2B. Signs and Symptoms The most common symptoms of juvenile hemochromatosis are as follows: * Weakness * Lethargy * Hyperpigmentation (darkening of the skin) * Arthropathy (joint disease) * Diabetes * Heart disease ( dilated cardiomyopathy). Complications of heart disease are the main c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
