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 .
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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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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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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.
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Blood: The familiar red fluid in the body that contains white and red blood cells, platelets, proteins, and other elements. The blood is transported throughout the body by the circulatory system. Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.
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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Clinical: 1. Having to do with the examination and treatment of patients. 2. Applicable to patients. A laboratory test may be of clinical value (of use to patients).
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Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Diarrhea : A familiar phenomenon with unusually frequent or unusually liquid bowel movements, excessive watery evacuations of fecal material. The opposite of constipation . The word "diarrhea" with its odd spelling is a near steal from the Greek "diarrhoia" meaning "a flowing through." Plato and Aristotle may have had diarrhoia while today we have diarrhea. There are myriad infectious and noninfectious causes of diarrhea.
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Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
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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Fetus: The unborn offspring from the end of the 8th week after conception (when the major structures have formed) until birth. Up until the eighth week, the developing offspring is called an embryo.
Fever : Although a fever technically is any body temperature above the normal of 98.6 degrees F. (37 degrees C.), in practice a person is usually not considered to have a significant fever until the temperature is above 100.4 degrees F (38 degrees C.).
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Folic acid: One of the B vitamins that is a key factor in the synthesis (the making) of nucleic acid (DNA and RNA).
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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.
Health: As officially defined by the World Health Organization, a state of complete physical, mental, and social well-being, not merely the absence of disease or infirmity.
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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Hematology: The diagnosis, treatment, and prevention of diseases of the blood and bone marrow as well as of the immunologic, hemostatic (blood clotting) and vascular systems. Because of the nature of blood, the science of hematology profoundly affects the understanding of many diseases.
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Hemoglobin: The oxygen-carrying pigment and predominant protein in the red blood cells . Hemoglobin forms an unstable, reversible bond with oxygen. In its oxygenated state it is called oxyhemoglobin and is bright red. In the reduced state it is called deoxyhemoglobin and is purple-blue.
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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.
Hepatosplenomegaly:Enlargement of the liver and spleen. The word "hepatosplenomegaly" is compounded from Greek roots: "hepato-" from "hepatikos" (of the liver) + "spleno" from "splen" (the spleen) + "megaly" from "megas" (big or great) = bigness of the liver and spleen.
Heterozygous: Possessing two different forms of a particular gene , one inherited from each parent. A person who is heterozygous is called a heterozygote or a gene carrier.
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Homozygous: Possessing two identical forms of a particular gene, one inherited from each parent.
Infant: A child up to 2 years (24 months) of age.
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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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Insertion: Chromosome abnormality due to insertion of a segment from one chromosome into another chromosome.
Internal medicine: A medical specialty dedicated to the diagnosis and medical treatment of adults. A physician who specializes in internal medicine is referred to as an internist. A minimum of seven years of medical school and postgraduate training are focused on learning the prevention, diagnosis, and treatment of diseases of adults. Subspecialties of internal medicine include allergy and immunology, cardiology (heart), endocrinology (hormone disorders), hematology (blood disorders), infectious diseases, gastroenterology (diseases of the gut), nephrology (kidney diseases), oncology (cancer), pulmonology (lung disorders), and rheumatology (arthritis and musculoskeletal disorders).
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.
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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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.
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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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Mediterranean anemia: Better known today as thalassemia (or as beta thalassemia or thalassemia major).
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NIH: The National Institutes of Health. The NIH is an important U.S. health agency. It is devoted to medical research. Administratively under the Department of Health and Human Services (HHS), the NIH consists of 20-some separate Institutes and Centers. NIH's program activities are represented by these Institutes and Centers.
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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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Pathologist: A doctor who identifies diseases by studying cells and tissues under a microscope.
Pediatrics: "Pediatrics is concerned with the health of infants, children and adolescents, their growth and development, and their opportunity to achieve full potential as adults." (Richard E.Behrman in Nelson's Textbook of Pediatrics)
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Polypeptide: A peptide consisting of 2 or more amino acids. Amino acids make up polypeptides which, in turn, make up proteins.
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.
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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 cell: The blood cell that carries 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 cell its red color (and name).
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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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Rupture: A break or tear in any organ (such as the spleen) or soft tissue (such as the achilles tendon). Rupture of the appendix is more likely among uninsured and minority children when they develop appendicitis.
Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.
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Spleen: An organ located in the upper left part of the abdomen near the stomach . The spleen produces lymphocytes ; it is the largest lymphatic organ in the body. The spleen also filters the blood, serves as a major reservoir for blood and destroys blood cells that are aged.
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Synthesis: Putting together different entities to make a whole which is new and different. In biochemistry , synthesis refers specifically to the process of building compounds from more elementary substances by means of one or more chemical reactions.
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Thalassemia: Not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of hemoglobin is made up of 4 polypeptide chains (usually 2 chains of one type and 2 chains of another type of chain). In thalassemia, there is a mutation (change) in one of the types of globin chains. Depending upon which globin chain is affected, the mutation typically leads to underproduction (or absence) of that globin chain, a deficiency of hemoglobin, and anemia.
Thalassemia major: The dire disease also known as beta thalassemia. The clinical picture of this form of anemia was first described in 1925 by the pediatrician Thomas Benton Cooley. Other names for the disease are Cooley's anemia and Mediterranean anemia. The term thalassemia was coined by the Nobel Prize winning pathologist George Whipple and the professor of pediatrics William Bradford at U. of Rochester because thalassa in Greek means the sea (like the Mediterranean Sea) + -emia means in the blood so thalassemia means sea in the blood. Thalassemia is not just one disease. It is a complex contingent of genetic (inherited) disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of normal adult hemoglobin is made up of 2 alpha and 2 beta polypeptide chains. In beta thalassemia, there is a mutation (change) in both beta globin chains leading to underproduction (or absence) of beta chains, underproduction of hemoglobin, and profound anemia. The gene for beta thalassemia is relatively frequent in people of Mediterranean origin (for example, from Italy and Greece). Children with this disease inherit one gene for it from each parent (and so are said to be homozygous for beta thalassemia). The parents are carriers (heterozygotes) with just one thalassemia gene, are said to have thalassemia minor, and are essentially normal. Their children affected with beta thalassemia seem entirely normal at birth (because at birth we still have predominantly fetal hemoglobin which does not contain beta chains) but the anemia emerges in the first few months of life and becomes progressively more severe leading to pallor and easy fatiguability, failure to thrive (grow), bouts of fever (due to infections) and diarrhea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, be applicable to this disease.
Thalassemia minor: Also called thalassemia trait, thalassemia minor is the carrier state for beta thalassemia. People who are carriers (heterozygotes) have just one thalassemia gene, are said to have thalassemia minor, and are essentially normal
Therapy: The treatment of disease .
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Trait: In genetics, a trait refers to any genetically determined characteristic. In technical terms, a genetic trait is amenable to segregation analysis rather than quantitative analysis.
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