Thalassemia

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.

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thal·as·se·mia or Brit thal·as·sae·mia .thal-ə-'sē-mē-ə n any of a group of inherited hypochromic anemias and esp. Cooley's anemia controlled by a series of allelic genes that cause reduction in or failure of synthesis of one of the globin chains making up hemoglobin and that tend to occur esp. in individuals of Mediterranean, African, or southeastern Asian ancestry sometimes used with a prefix (as alpha-, beta-, or delta-) to indicate the hemoglobin chain affected called also Mediterranean anemia see beta-thalassemia

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thal·as·se·mia (thal″ə-seґme-ə) [Gr. thalassa sea (because it was observed originally in persons of Mediterranean stock) + -emia] a heterogeneous group of hereditary hemolytic anemias that have in common a decreased rate of synthesis of one or more hemoglobin polypeptide chains and are classified according to the chain involved (α, β, δ); the two major categories are α- and β-thalassemia. Homozygous forms are manifested by profound anemia or death in utero, and heterozygous forms by erythrocyte anomalies ranging from mild to severe.

Medical dictionary. 2011.

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Look at other dictionaries:

  • Thalassemia — Classification and external resources ICD 10 D56 ICD 9 282.4 …   Wikipedia

  • thalassemia — thalassemia. См. эритробластическая анемия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • thalassemia — from thalasso , comb. form of Gk. thalassa sea + haima blood (see EMIA (Cf. emia)) …   Etymology dictionary

  • thalassemia — [thal΄ə sē′mē ə] n. [ModL < Gr thalassa, sea + EMIA] an inherited chronic anemia, initially found among Mediterranean peoples, resulting from faulty hemoglobin production …   English World dictionary

  • thalassemia — /thal euh see mee euh/, n. Pathol. a hereditary form of anemia, occurring chiefly in people of Mediterranean origin, marked by the abnormal synthesis of hemoglobin and a consequent shortened life span of red blood cells. Also called Cooley s… …   Universalium

  • thalassemia — noun an inherited form of anemia caused by faulty synthesis of hemoglobin • Syn: ↑thalassaemia, ↑Mediterranean anemia, ↑Mediterranean anaemia • Hypernyms: ↑hypochromic anemia, ↑hypochromic anaemia, ↑monogenic disorder, ↑ …   Useful english dictionary

  • 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… …   Medical dictionary

  • Thalassemia, beta — Also known as thalassemia major .The clinical picture of this important type 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 name… …   Medical dictionary

  • 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 * * * thalassemia… …   Medical dictionary

  • Thalassemia, alpha — A blood disorder, thalassemia is not one disease but rather a group of disorders that have a single feature in common: they all have a genetic defect in the production of hemoglobin, the protein that enables red blood cells to carry oxygen. All… …   Medical dictionary

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