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February 10, 2012

Hemochromatosis (Iron Overload) Glossary of Terms

The following are health and medical definitions of terms that appear in the Hemochromatosis (Iron Overload) article.

Abdominal: Relating to the abdomen, the belly, that part of the body that contains all of the structures between the chest and the pelvis. The abdomen is separated anatomically from the chest by the diaphragm, the powerful muscle spanning the body cavity below the lungs.
See the entire definition of Abdominal

Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).

Absorb: 1. To take something in, as through the skin or the intestine.
2. To react with radiation and reduce it in intensity, as with a dose of radiation or transmitted light.
See also: Absorbed dose; Absorption; Malabsorption; Reabsorption.

Absorption: Uptake. In the biomedical sciences, absorption has diverse specific meanings.
See the entire definition of Absorption

Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.

Anemia: The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
See the entire definition of Anemia

Anesthesia: Loss of feeling or awareness. A general anesthetic puts the person to sleep. A local anesthetic causes loss of feeling in a part of the body such as a tooth or an area of skin without affecting consciousness. Regional anesthesia numbs a larger part of the body such as a leg or arm, also without affecting consciousness. The term "conduction anesthesia" encompasses both local and regional anesthetic techniques. Many surgical procedures can be done with conduction anesthesia without significant pain. In many situations, such as a C-section, conduction anesthesia is safer and therefore preferable to general anesthesia. However, there are also many types of surgery in which general anesthesia is clearly appropriate.

Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
See the entire definition of Autosomal

Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children. Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and polycystic kidney disease.

Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
See the entire definition of Autosomal recessive

Bacterial: Of or pertaining to bacteria. For example, a bacterial lung infection.

Biopsy: The removal of a sample of tissue for purposes of diagnosis. (Many definitions of "biopsy" stipulate that the sample of tissue is removed for examination under a microscope. This may or may not be the case. The diagnosis may be achieved by other means such as by analysis of chromosomes or genes.)
See the entire definition of Biopsy

Breastfeeding: Feeding a child human breast milk. According to the American Academy of Pediatrics, human breast milk is preferred for all infants. This includes even premature and sick babies, with rare exceptions. It is the food least likely to cause allergic reactions; it is inexpensive; it is readily available at any hour of the day or night; babies accept the taste readily; and the antibodies in breast milk can help a baby resist infections.
See the entire definition of Breastfeeding

Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread).
See the entire definition of Cancer

Carcinoma: Cancer that begins in the skin or in tissues that line or cover body organs. For example, carcinoma can arise in the breast, colon, liver, lung, prostate, and stomach.

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Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane.
See the entire definition of Cell

Chromosome: A visible carrier of the genetic information.
See the entire definition of Chromosome

Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
See the entire definition of Chromosomes

Cirrhosis: An abnormal liver condition characterized by irreversible scarring of the liver. Alcohol and viral hepatitis B and C are among the many causes of cirrhosis. Cirrhosis can cause yellowing of the skin (jaundice), itching, and fatigue. Diagnosis of cirrhosis can be suggested by physical examination and blood tests, and can be confirmed by liver biopsy in some patients. Complications of cirrhosis include mental confusion, coma, fluid accumulation (ascites), internal bleeding, and kidney failure. Treatment of cirrhosis is designed to limit any further damage to the liver as well as complications. Liver transplantation is becoming an important option for patients with advanced cirrhosis.

Compound heterozygote: The presence of two different mutant alleles at a particular gene locus, one on each chromosome of a pair.
See the entire definition of Compound heterozygote

Diabetes: Refers to diabetes mellitus or, less often, to diabetes insipidus. Diabetes mellitus and diabetes insipidus share the name "diabetes" because they are both conditions characterized by excessive urination (polyuria).
See the entire definition of Diabetes

Diabetes mellitus: Better known just as "diabetes" -- a chronic disease associated with abnormally high levels of the sugar glucose in the blood. Diabetes is due to one of two mechanisms:
(1) Inadequate production of insulin (which is made by the pancreas and lowers blood glucose) or
(2) Inadequate sensitivity of cells to the action of insulin.
The two main types of diabetes correspond to these two mechanisms and are called insulin dependent (type 1) and non-insulin dependent (type 2) diabetes. In type 1 diabetes there is no insulin or not enough of it. In type 2 diabetes, there is generally enough insulin but the cells upon it should act are not normally sensitive to its action.
See the entire definition of Diabetes mellitus

DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA. In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)
See the entire definition of DNA

Dysfunction: Difficult function or abnormal function.
See the entire definition of Dysfunction

Enzymes: Proteins that act as a catalysts in mediating and speeding a specific chemical reaction.
See the entire definition of Enzymes

Excess iron: Iron overload can damage the heart, liver, gonads and other organs.
See the entire definition of Excess iron

Fasting: going without food or drink. Patients may be advised to fast for a certain period of time prior to surgery, medical procedures, or certain blood tests.

Fatigue: A condition characterized by a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a feeling of weariness and tiredness. Fatigue can be acute and come on suddenly or chronic and persist.
See the entire definition of Fatigue

Ferritin: The major iron storage protein in the body. The blood level of ferritin serves as an indicator of the amount of iron stored in the body. Ferritin has the shape of a hollow sphere that permits the entry of a variable amount of iron for storage (as ferric hydroxide phosphate complexes). When ferritin levels are too high, this can be indicative of an iron storage disorder, a chronic inflammatory condition such as liver disease or rheumatoid arthritis, or some types of cancer. Low levels of ferritin are seen in iron deficiency.

Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
See the entire definition of Gene back to top

Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
See the entire definition of Genes

Genetic: Having to do with genes and genetic information.

Genetic testing: Tests done for clinical genetic purposes. Genetic tests may be done for diverse purposes pertaining to clinical genetics, including the diagnosis of genetic disease in children and adults; the identification of future disease risks; the prediction of drug responses; and the detection of risks of disease to future children.

Gland: 1. A group of cells that secrete a substance for use in the body. For example, the thyroid gland. 2. A group of cells that removes materials from the circulation. For example, a lymph gland.

Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.
See the entire definition of Heart

Heart failure: Inability of the heart to keep up with the demands on it and, specifically, failure of the heart to pump blood with normal efficiency. When this occurs, the heart is unable to provide adequate blood flow to other organs such as the brain, liver and kidneys. Heart failure may be due to failure of the right or left or both ventricles. The signs and symptoms depend upon which side of the heart is failing. They can include shortness of breath (dyspnea), asthma due to the heart (cardiac asthma), pooling of blood (stasis) in the general body (systemic) circulation or in the liver's (portal) circulation, swelling (edema), blueness or duskiness (cyanosis), and enlargement (hypertrophy) of the heart.
See the entire definition of Heart failure

Heart muscle: A type of muscle with unique features only found in the heart. The heart muscle, or cardiac muscle, is medically called the myocardium ("myo-" being the prefix denoting muscle).

Hemochromatosis: Hemochromatosis (iron overload) is an inherited disorder in how the body absorbs and stores iron. The excess iron gives the skin a bronze color and damages the liver and other organs. Diabetes is also a part of the syndrome due to damage to the pancreas.

Hepatitis: Inflammation of the liver from any cause.
See the entire definition of Hepatitis

Hepatocellular carcinoma: A tumor in which the cancer starts during adulthood in cells in the liver. Also called adult primary liver cancer.
See the entire definition of Hepatocellular carcinoma

Hepatoma: Cancer originating in the liver, in liver cells. More often called hepatocarcinoma or hepatocellular carcinoma. From hepat-, the liver + -oma, tumor = a liver tumor.

Heterozygote: A person possessing two different forms of a particular gene, one inherited from each parent. A heterozygote is also called a carrier.
See the entire definition of Heterozygote

Homozygote: A person who has two identical forms of a particular gene, one inherited from each parent.
See the entire definition of Homozygote

Impotence: A common problem among men characterized by the consistent inability to sustain an erection sufficient for sexual intercourse or the inability to achieve ejaculation, or both. Impotence can vary. It can involve a total inability to achieve an erection or ejaculation, an inconsistent ability to do so, or a tendency to sustain only very brief erections.
See the entire definition of Impotence

Insulin: A natural hormone made by the pancreas that controls the level of the sugar glucose in the blood. Insulin permits cells to use glucose for energy. Cells cannot utilize glucose without insulin.
See the entire definition of Insulin back to top

Iron: An essential mineral. Iron is necessary for the transport of oxygen (via hemoglobin in red blood cells) and for oxidation by cells (via cytochrome). Deficiency of iron is a common cause of anemia. Food sources of iron include meat, poultry, eggs, vegetables and cereals (especially those fortified with iron). According to the National Academy of Sciences, the Recommended Dietary Allowances of iron are 15 milligrams per day for women and 10 milligrams per day for men. Iron overload can damage the heart, liver, gonads and other organs. Iron overload is a particular risk in people who may have certain genetic conditions (hemochromatosis) sometimes without knowing it and also in people receiving recurrent blood transfusions. Iron supplements meant for adults (such as pregnant women) are a major cause of poisoning in children.

Iron deficiency anemia: The most common known form of nutritional disorder in the world, iron deficiency results in anemia because iron is necessary to make hemoglobin, key molecule in red blood cells responsible for the transport of oxygen. In iron deficiency anemia, the red cells appear abnormal and are unusually small (microcytic) and pale (hypochromic). The pallor of the red cells reflects their low hemoglobin content.
See the entire definition of Iron deficiency anemia

Iron overload: Iron overload can damage the heart, liver, gonads and other organs.
See the entire definition of Iron overload

Joint: A joint is the area where two bones are attached for the purpose of motion of body parts. A joint is usually formed of fibrous connective tissue and cartilage. An articulation or an arthrosis is the same as a joint.
See the entire definition of Joint

Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.


See the entire definition of Liver

Liver biopsy: A procedure in which a small sample of the liver is removed for the diagnosis of abnormal liver conditions.
See the entire definition of Liver biopsy

Liver disease: Liver disease refers to any disorder of the liver. The liver is a large organ in the upper right abdomen that aids in digestion and removes waste products from the blood.
See the entire definition of Liver disease

Liver pain: Pain coming from the liver. The liver does not contain nerve fibers that sense pain. Therefore, liver tissue can be cut, burned, or compressed without causing pain. There are pain fibers, however, in the liver's capsule, a thin layer of tissue that surrounds the liver tissue itself. The pain fibers of the capsule are stimulated when the capsule is stretched. Thus anything that stretches the capsule can cause liver pain. The common liver diseases that stretch the capsule are tumors that grow within the liver and inflammation of the liver that occurs, for example, with hepatitis of any cause. In the latter case, an accumulation of inflammatory cells and fluid within the liver is what stretches the capsule. The bile ducts that carry bile from the liver to the gallbladder and intestine as well as the gallbladder, also are surrounded by a thin layer of tissue that senses pain when it is stretched. Thus, stretching of the ducts due to problems within the ducts can lead to pain that may be difficult to distinguish from stretching of the capsule of the liver.

Longevity: Lifespan. (With increasing longevity, women will soon be postmenopausal for one third of their lives).

Menstrual: Pertaining to menstruation (the menses), as in last menstrual period, menstrual cramps, menstrual cycle, and premenstrual syndrome. From the Latin menstrualis, from mensis meaning month.

Menstruation: The periodic blood that flows as a discharge from the uterus. Also called menorrhea, the time during which menstruation occurs is referred to as menses. The menses occurs at approximately 4 week intervals to compose the menstrual cycle.

Metabolism: The whole range of biochemical processes that occur within an organism. Metabolism consists both of anabolism and catabolism (the buildup and breakdown of substances, respectively). The biochemical reactions are known as metabolic pathways and involve enzymes that transform one substance into another substance, either breaking down a substance or building a new chemical substance. The term is commonly used to refer specifically to the breakdown of food and its transformation into energy.

Microscope: An optical instrument that augments the power of the eye to see small objects. The name microscope was coined by Johannes Faber (1574-1629) who in 1628 borrowed from the Greek to combined micro-, small with skopein, to view. Although the first microscopes were simple microscopes, most (if not all) optical microscopes today are compound microscopes.

Muscle: Muscle is the tissue of the body which primarily functions as a source of power. There are three types of muscle in the body. Muscle which is responsible for moving extremities and external areas of the body is called "skeletal muscle." Heart muscle is called "cardiac muscle." Muscle that is in the walls of arteries and bowel is called "smooth muscle."

Mutation: A permanent change, a structural alteration, in the DNA or RNA. In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV, mutations occur in RNA which is the genetic material of retroviruses.
See the entire definition of Mutation back to top

Nucleus: 1) In cell biology, the structure that houses the chromosomes. 2) In neuroanatomy, a group of nerve cells.

Organ: A relatively independent part of the body that carries out one or more special functions. The organs of the human body include the eye, ear, heart, lungs, and liver.

Pain: An unpleasant sensation that can range from mild, localized discomfort to agony. Pain has both physical and emotional components. The physical part of pain results from nerve stimulation. Pain may be contained to a discrete area, as in an injury, or it can be more diffuse, as in disorders like fibromyalgia. Pain is mediated by specific nerve fibers that carry the pain impulses to the brain where their conscious appreciation may be modified by many factors.
See the entire definition of Pain

Pancreas: A fish-shaped spongy grayish-pink organ about 6 inches (15 cm) long that stretches across the back of the abdomen, behind the stomach. The head of the pancreas is on the right side of the abdomen and is connected to the duodenum (the first section of the small intestine). The narrow end of the pancreas, called the tail, extends to the left side of the body.


See the entire definition of Pancreas

Phlebotomy: Obtaining blood from a vein. In the old days, this was done by incising (cutting) a vein and just letting the blood flow into a container. Today phlebotomy is done more neatly by puncturing a vein with a needle.
See the entire definition of Phlebotomy

Pituitary: 1. As an adjective, pertaining to the pituitary gland or its hormonal secretions. 2. As a noun, the pituitary gland itself.
See the entire definition of Pituitary

Pituitary gland: The main endocrine gland. It is a small structure in the head. It is called the master gland because it produces hormones that control other glands and many body functions including growth. The pituitary consists of the anterior and posterior pituitary.
See the entire definition of Pituitary gland

Prognosis: 1. The expected course of a disease.
2. The patient's chance of recovery.
The prognosis predicts the outcome of a disease and therefore the future for the patient. His prognosis is grim, for example, while hers is good.
See the entire definition of Prognosis

Prognostic: 1. (adjective) In medicine, relating to the prognosis of a disease. For example, a favorable prognostic factor.
2. (adjective) Generally, relating to a prediction. For example, a prognostic index for the economy.
3. (noun) In medicine, an indicator of the course of a disease.
4. (noun) Any type of prediction.

The word prognostic is far more often used today as an adjective than as a noun. Prognostic is taken from the Greek prognostikos (of knowledge beforehand). It combines pro (before) and gnosis (a knowing). Hippocrates used the word prognosis, much as we do today, to mean a foretelling of the course of a disease.

Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
See the entire definition of Protein

Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
See the entire definition of Recessive

Rib: One of the 12 paired arches of bone which form the skeletal structure of the chest wall (the rib cage). The ribs attach to the building blocks of the spine (vertebrae) in the back. The 12 pairs of ribs consist of:

  • True ribs: The first seven ribs attach to the sternum (the breast bone) in the front and are known as true ribs (or sternal ribs).
  • False ribs: The lower five ribs do not directly connect to the sternum and are known as false ribs.

See the entire definition of Rib

Rib cage: The structure formed by the thoracic vertebrae and ribs, the sternum (breastbone), and the costal cartilages (that attach the ribs to the sternum).
See the entire definition of Rib cage

Serum: The clear liquid that can be separated from clotted blood. Serum differs from plasma, the liquid portion of normal unclotted blood containing the red and white cells and platelets. It is the clot that makes the difference between serum and plasma.
See the entire definition of Serum

Skin color: The color of skin which is complexly determined. Skin color depends on many factors including reddening caused by inflammation, the hemoglobin level in the blood, and the darkening caused by increased deposition of the pigment melanin. Melanin itself is a polymer that comes in two types -- a red-yellow form known as pheomelanin and a black-brown form known as eumelanin.
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Sweat: A colorless transparent acidic fluid with a distinctive odor secreted by the small tubular sudoriferous (sweat) glands situated within the skin and under it in the subcutaneous tissue. The sweat glands discharge their fluid through tiny openings in the surface of the skin.
See the entire definition of Sweat

Testicles: The testicles (also called testes or gonads) are the male sex glands. They are located behind the penis in a pouch of skin called the scrotum. The testicles produce and store sperm, and they are also the body's main source of male hormones (testosterone). These hormones control the development of the reproductive organs and other male characteristics, such as body and facial hair, low voice, and wide shoulders.

Therapeutic: Relating to therapeutics, that part of medicine concerned specifically with the treatment of disease. The therapeutic dose of a drug is the amount needed to treat a disease.
See the entire definition of Therapeutic

Transferrin: A plasma protein that transports iron through the blood to the liver, spleen and bone marrow.
See the entire definition of Transferrin

Ultrasound: High-frequency sound waves. Ultrasound waves can be bounced off of tissues using special devices. The echoes are then converted into a picture called a sonogram. Ultrasound imaging, referred to as ultrasonography, allows physicians and patients to get an inside view of soft tissues and body cavities, without using invasive techniques. Ultrasound is often used to examine a fetus during pregnancy. There is no convincing evidence for any danger from ultrasound during pregnancy.

Viral: Of or pertaining to a virus. For example, "My daughter has a viral rash."

Vitamin C: An essential nutrient found mainly in fruits and vegetables. The body requires vitamin C to form and maintain bones, blood vessels, and skin.
See the entire definition of Vitamin C back to top



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Hemochromatosis (Iron Overload)

What are the basic functions of the liver?

The liver, located in the right upper portion of the abdominal cavity just beneath the right side of the rib cage, has many vital functions. Briefly, some of these functions are:

  • Detoxification of blood
  • Production of important clotting factor and other important proteins
  • Metabolizing (processing) medications and nutrients
  • Processing of waste products of hemoglobin
  • Storing of vitamins, fat, cholesterol, and bile
  • Production of glucose

What are common liver blood tests?

Liver blood tests are some of the most commonly performed blood tests. These tests can assess liver functions or liver injury. An initial step in detecting liver damage is a simple blood test to determine the presence of certain liver enzymes (proteins) in the blood. Under normal circumstances, these enzymes reside within the cells of the liv...

Read the Liver Blood Tests article »







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