pernicious anemia

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anemia (ənēˈmēə), condition in which the concentration of hemoglobin in the circulating blood is below normal. Such a condition is caused by a deficient number of erythrocytes (red blood cells), an abnormally low level of hemoglobin in the individual cells, or both these conditions simultaneously. Regardless of the cause, all types of anemia cause similar signs and symptoms because of the blood's reduced capacity to carry oxygen. These symptoms include pallor of the skin and mucous membranes, weakness, dizziness, easy fatigability, and drowsiness. Severe cases show difficulty in breathing, heart abnormalities, and digestive complaints.

One of the most common anemias, iron-deficiency anemia, is caused by insufficient iron, an element essential for the formation of hemoglobin in the erythrocytes. In most adults (except pregnant women) the cause is chronic blood loss rather than insufficient iron in the diet, and, therefore, the treatment includes locating the source of abnormal bleeding in addition to the administration of iron.

Pernicious anemia causes an increased production of erythrocytes that are structurally abnormal and have attenuated life spans. This condition rarely occurs before age 35 and is inherited, being more prevalent among persons of Scandinavian, Irish, and English extraction. It is caused by the inability of the body to absorb vitamin B12 (which is essential for the maturation of erythrocytes).

There are several conditions that cause the destruction of erythrocytes, thereby producing anemia. Allergic-type reactions to bacterial toxins and various chemical agents, among them sulfonamides and benzene, can cause hemolysis, which requires emergency treatment. In addition, there are unusual situations in which the body produces antibodies against its own erythrocytes; the mechanism triggering such reactions remains obscure.

There are several inherited anemias that are more common among dark-skinned people. Sickle cell disease is inherited as a recessive trait almost exclusively among blacks; the condition is characterized by a chemical abnormality of the hemoglobin molecule that causes the erythrocytes to be misshapen. In 1957 Vernon Ingram determined the amino acid sequence of hemoglobin, and found the beta-globins (which is one of the two polypeptide chain types) that are found in the tetrameric (four-chain) hemoglobin protein. In sickle cell disease a single mutation produces the amino acid valine instead of glutamic acid in one of the protein chain types that make up the hemoglobin molecule.

In thalassemia major (Cooley's anemia), which is the most serious of the hereditary anemias among people of Mediterranean, Middle Eastern, and S Chinese ancestry, the erythrocytes are abnormally shaped. Symptoms include enlarged liver and spleen and jaundice. Thalassemia major usually causes death before adulthood is reached.

Any disease or injury to the bone marrow can cause anemia, since that tissue is the site of erythrocyte synthesis. Bone marrow destruction can also be caused by irradiation, disease, or various chemical agents. In cases of renal dysfunction, the severity of the associated anemia correlates highly with the extent of the dysfunction; it is treated with genetically engineered erythropoietin.

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pernicious anemia

[pər′nish·əs ə′nēm·ē·ə]
A megaloblastic macrocytic anemia resulting from lack of vitamin B12, secondary to gastric atrophy and loss of intrinsic factor necessary for vitamin B12 absorption, and accompanied by degeneration of the posterior and lateral columns of the spinal cord.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.