Mediterranean anemia
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 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

* * *

Med·i·ter·ra·nean anemia .med-ə-tə-'rā-nē-ən-, -nyən- n THALASSEMIA

* * *

thalassemia major.

Medical dictionary. 2011.

Look at other dictionaries:

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

  • Anemia, Cooley’s — 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. Another name for the disease is… …   Medical dictionary

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

  • 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… …   Medical dictionary

  • 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. Sickle cell anemia… …   Medical dictionary

  • hypochromic anemia — noun anemia characterized by a decrease in the concentration of corpuscular hemoglobin • Syn: ↑hypochromic anaemia • Hypernyms: ↑anemia, ↑anaemia • Hyponyms: ↑thalassemia, ↑thalassaemia, ↑ …   Useful english dictionary

  • Cooley's anemia — noun a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged • Syn: ↑Cooley s anaemia, ↑thalassemia major, ↑thalassaemia major • Hypernyms:… …   Useful english dictionary

  • Sickle cell anemia — 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 areas of the body. Sickle cell anemia affects… …   Medical dictionary

  • Cooley's anemia — Coo·ley s anemia .kü lēz n a severe thalassemic anemia that is associated with the presence of microcytes, enlargement of the liver and spleen, increase in the erythroid bone marrow, and jaundice and that occurs esp. in children of Mediterranean… …   Medical dictionary

  • sickle cell anemia — Pathol. a chronic hereditary blood disease, occurring primarily among Africans or persons of African descent, in which abnormal hemoglobin causes red blood cells to become sickle shaped and nonfunctional, characterized by enlarged spleen, chronic …   Universalium

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”