G6PD Deficiency Glossary of Terms
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.
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Bacterial: Of or pertaining to bacteria. For example, a bacterial lung infection.
Carbohydrates: Mainly sugars and starches, together constituting one of the three principal types of nutrients used as energy sources (calories) by the body. Carbohydrates can also be defined chemically as neutral compounds of carbon, hydrogen and oxygen.
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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 .
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Chromosome: A visible carrier of the genetic information.
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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.
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Enzyme: A protein (or protein-based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions , converting a specific set of reactants (called substrates) into specific products. Without enzymes, life as we know it would not exist.
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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.
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Favism: A condition characterized by hemolytic anemia (breakup of red blood cells) after eating fava beans (Vicia fava) or being exposed to the pollen of the fava plant. This dangerous reaction occurs exclusively in people with a deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD), an X-linked genetic trait. However, not all G6PD-deficient families appear at risk for favism, indicating the additional need for a single autosomal (not X-linked) gene to create the susceptibility to favism of G6PD-deficient persons. The active hemolytic principle in fava beans is > likely DOPA-quinone. Differences in susceptibility to favism may be related to differences in the enzymatic system that converts L-DOPA to DOPA-quinone.
G6PD deficiency : Deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD), the most common enzyme defect of medical importance. About 10 percent of American black males have G6PD deficiency, as do a lesser percent of black females. G6PD deficiency is also increased in frequency in people of Mediterranean origin (including Italians, Greeks, Arabs, and Jews). The gene encoding G6PD is on the X chromosome. Males with this enzyme deficiency may develop anemia due to the breakup of their red blood cells when they are exposed to oxidant drugs, naphthalene moth balls, or fava beans. The offending drugs include the antimalarial primaquine, salicylates, sulfonamide antibiotics, nitrofurans, phenacetin, and some vitamin K derivatives. Fever, viral and bacterial infections, and diabetic acidosis can also precipitate a hemolytic crisis (when the red blood cells break up), resulting in anemia and jaundice . The concentration of G6PD deficiency in certain populations is believed to reflect a protective effect it afforded (much like sickle cell trait) against malaria .
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
Genetics: The scientific study of heredity . Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
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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.
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Hemolysis: The destruction of red blood cells which leads to the release of hemoglobin from within the red blood cells into the blood plasma .
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Hemolytic: Referring to hemolysis, the destruction of red blood cells which leads to the release of hemoglobin from within the red blood cells into the blood plasma .
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Hemolytic anemia: Anemia due to the destruction (rather than underproduction) of red blood cells.
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child.
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Jaundice: Yellow staining of the skin and sclerae (the whites of the eyes) by abnormally high blood levels of the bile pigment bilirubin . The yellowing extends to other tissues and body fluids. Jaundice was once called the "morbus regius" (the regal disease) in the belief that only the touch of a king could cure it.
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Lungs: The lungs are a pair of breathing organs located with the chest which remove carbon dioxide from and bring oxygen to the blood. There is a right and left lung.
Malaria : An infectious disease caused by protozoan parasites from the Plasmodium family that can be transmitted by the sting of the Anopheles mosquito or by a contaminated needle or transfusion. Falciparum malaria is the most deadly type.
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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.
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Oxygen: A colorless, odorless and tasteless gas that makes up about 20% of the air we breathe (and at least half the weight of the entire solid crust of the earth) and which combines with most of the other elements to form oxides. Oxygen is essential to human, animal and plant life.
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Parasite: An organism that lives in or on and takes its nourishment from another organism. A parasite cannot live independently.
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Pollen: Small, light, dry protein particles from trees, grasses, flowers, and weeds that may be spread by the wind. Pollen particles are usually the male sex cells of the plant, and are smaller than the tip of a pin. Pollen is a potent stimulator of allergic responses. It lodges in the mucus membranes that line the nose and in other parts of the respiratory tract, causing irritation and histamine reactions.
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Reactive oxygen species: Species such as superoxide, hydrogen peroxide, and hydroxyl radical. At low levels, these species may function in cell signalling processes. At higher levels, these species may damage cellular macromolecules (such as DNA and RNA) and participate in apoptosis (programmed cell death).
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.
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Red blood cells: The blood cells that carry oxygen. Red cells contain hemoglobin and it is the hemoglobin which permits them to transport oxygen (and carbon dioxide). Hemoglobin, aside from being a transport molecule, is a pigment. It gives the cells their red color (and their name).
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Shortness of breath: Difficulty in breathing. Medically referred to as dyspnea. Shortness of breath can be caused by respiratory (breathing passages and lungs) or circulatory (heart and blood vessels) conditions. See also dyspnea.
Urine: Liquid waste. The urine is a clear, transparent fluid. It normally has an amber color. The average amount of urine excreted in 24 hours is from 40 to 60 ounces (about 1,200 cubic centimeters). Chemically, the urine is mainly an aqueous (watery) solution of salt (sodium chloride) and substances called urea and uric acid. Normally, it contains about 960 parts of water to 40 parts of solid matter. Abnormally, it may contain sugar (in diabetes), albumen (a protein) (as in some forms of kidney disease), bile pigments (as in jaundice), or abnormal quantities of one or another of its normal components.
Viral: Of or pertaining to a virus. For example, "My daughter has a viral rash ."
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X chromosome: A sex chromosome found in both females and males. Normal females usually have two X chromosomes. Normal males usually have one X along with a Y chromosome . The complete chromosome complement consisting of 46 chromosomes is conventionally written as 46,XX for females and 46,XY for males.
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X-linked: On the X chromosome. "Linked" in genetics does not mean merely associated. An X-linked gene travels with the X chromosome and therefore is part of the X chromosome.
- Hemoglobin - Read about hemoglobin - the protein molecule in red blood cells. Learn what normal, low, and high level hemoglobin counts mean on MedicineNet.com
- Anemia - Read about anemia (low blood cell count, low hemoglobin) causes like iron deficiency, stomach ulcers, medications, colon cancer, trauma, vitamin 12 or folate deficiency, leukemia, myltiple myeloma and more.
- Jaundice - Jaundice Jaundice is the yellowish staining of the skin and the whites of the eye. Jaundice has many causes.
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