Medical Glossary

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19186
medical terms

Anemia, Mediterranean




Anemia, Mediterranean

Better known today as thalassemia (or as beta thalassemia or thalassemia major). The clinical picture of this important type of anemia was first described in 1925 by the pediatrician Thomas Benton Cooley. The name thalassemia was coined by the Nobel Prize winning pathologist George Whipple and the professor of pediatrics Wm 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. 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. The anemia surfaces in the first few months after birth and becomes progressively more severe leading to pallor and easy fatigability, 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.

RELATED TERMS
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Today
Today is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): nonoxynol-9.

Thalassemia
An inherited disorder in which abnormal hemoglobin is formed; required repeated blood transfusions result in iron loading with especial impairment of functions of pituitary, heart and pancreas; prevalent in countries bordering the Mediterranean, in the Middle East, and in India and Southeast Asia.

Clinical
That which can be observed in patients. Research that uses patients to test new treatments, as opposed to laboratory testing or research in animals.

Anemia
Anemia is a condition in which a deficiency in the size or number of erythrocytes (red blood cells) or the amount of hemoglobin they contain limits the exchange of oxygen and carbon dioxide between the blood and the tissue cells. Most anemias are caused by a lack of nutrients required for normal erythrocyte synthesis, principally iron, vitamin B-12, and folic acid. Others result from a variety of conditions, such as hemorrhage, genetic abnormalities, chronic disease states or drug toxicity.

Pediatrician
A physician who specializes in treating infants and children up to adolescence.

Pathologist
A physician trained in the nature, cause, process and effects of disease; examines samples of tissue removed during surgery to determine an exact diagnosis.

Pediatrics
The branch of medicine that deals with the development and care of infants and children.

Blood
The life-maintaining fluid which is made up of plasma, red blood cells (erythrocytes), white blood cells (leukocytes), and platelets; blood circulates through the body's heart, arteries, veins, and capillaries; it carries away waste matter and carbon dioxide, and brings nourishment, electrolytes, hormones, vitamins, antibodies, heat, and oxygen to the tissues.

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.

Genetic
Hereditary. Having to do with the genes.

Hemoglobin
Hemoglobin is a substance contained within the red blood cells and is responsible for their color. It has the unique property of combining reversibly with oxygen and is the medium by which oxygen is transported within the body. It takes up oxygen as blood passes through the lungs and releases it as blood passes through the tissues.

Oxygen
A chemical element essential for sustaining life.

Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.

Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.

Fetal
Having to do with the fetus.

Pallor
Pale appearance of the skin.

Fever
When body temperature rises above its normal level - defined as 98.6 degrees F, though it varies by individual and time of day. A fever is the sign of an immune system at work and usually indicates an infection.

Diarrhea
Passage of excessively liquid or excessively frequent stools.



SIMILAR TERMS
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Anemia
Anemia is a condition in which a deficiency in the size or number of erythrocytes (red blood cells) or the amount of hemoglobin they contain limits the exchange of oxygen and carbon dioxide between the blood and the tissue cells. Most anemias are caused by a lack of nutrients required for normal erythrocyte synthesis, principally iron, vitamin B-12, and folic acid. Others result from a variety of conditions, such as hemorrhage, genetic abnormalities, chronic disease states or drug toxicity.

Anemia and triphalangeal thumbs
See: Aase-Smith syndrome II.

Anemia, Addison
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, addisonian
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, aplastic
See: Aplastic anemia.

Anemia, congenital
See: Congenital anemia.

Anemia, Fanconi
See Fanconi anemia.

Anemia, iron deficiency
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.

Anemia, pernicious
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, refractory
Anemia (a shortage of red blood cells) unresponsive to treatment.

Anemia, sickle cell
A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest reaches of the body.

Anemia, sideroblastic, and spinocerebellar ataxia
ASAT. See: Pagon syndrome.

Anemic
Relating to 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.



PREVIOUS AND NEXT TERMS
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Anemia, addisonian
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, aplastic
See: Aplastic anemia.

Anemia, congenital
See: Congenital anemia.

Anemia, Fanconi
See Fanconi anemia.

Anemia, iron deficiency
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.

Anemia, Mediterranean

Anemia, pernicious
A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF).

Anemia, refractory
Anemia (a shortage of red blood cells) unresponsive to treatment.

Anemia, sickle cell
A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest reaches of the body.

Anemia, sideroblastic, and spinocerebellar ataxia
ASAT. See: Pagon syndrome.

Anemic
Relating to 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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This dictionary contains 19186 terms.







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