Thalassemia overview: Difference between revisions
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'''Thalassemia''' (British spelling, "thalassaemia") is an inherited [[autosomal recessive]] [[blood disease]]. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up [[hemoglobin]]. Reduced synthesis of one of the globin chains causes the formation of abnormal hemoglobin molecules, and this in turn causes the [[anemia]] which is the characteristic presenting symptom of the thalassemias. | '''Thalassemia''' (British spelling, "thalassaemia") is an inherited [[autosomal recessive]] [[blood disease]]. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up [[hemoglobin]]. Reduced synthesis of one of the globin chains causes the formation of abnormal hemoglobin molecules, and this in turn causes the [[anemia]] which is the characteristic presenting symptom of the thalassemias. | ||
Thalassemia is a quantitative problem of too few globins synthesized, whereas [[sickle-cell disease]] (a [[hemoglobinopathy]]) is a qualitative problem of synthesis of a non-functioning globin. Thalassemias usually result in under production of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves <ref name= | Thalassemia is a quantitative problem of too few globins synthesized, whereas [[sickle-cell disease]] (a [[hemoglobinopathy]]) is a qualitative problem of synthesis of a non-functioning globin. Thalassemias usually result in under production of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves <ref name=Airmail> Airmail. [http://web2.airmail.net/uthman/hemoglobinopathy/hemoglobinopathy.html]</ref>. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some thalassemias are hemoglobinopathies, but most are not. Either or both of these conditions may cause anemia. | ||
==Historical Perspective== | ==Historical Perspective== | ||
Revision as of 20:17, 17 June 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]
Overview
Thalassemia (British spelling, "thalassaemia") is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains causes the formation of abnormal hemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias.
Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell disease (a hemoglobinopathy) is a qualitative problem of synthesis of a non-functioning globin. Thalassemias usually result in under production of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves [1]. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some thalassemias are hemoglobinopathies, but most are not. Either or both of these conditions may cause anemia.