Beta-thalassemia overview: Difference between revisions
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==Classification== | ==Classification== | ||
Beta-Thalassemia is classified based on the severity and the type of responsible mutation. It mainly has 3 types: β thalassemia minor, β thalassemia major, Thalassemia intermedia. There are less common types such as E/Beta-thalassemia, autosomal dominant Beta-thalassemia and atypical Beta-Thalassemia. | Beta-Thalassemia is classified based on the severity and the type of responsible mutation. It mainly has 3 types: β thalassemia minor, β thalassemia major, Thalassemia intermedia. There are less common types such as E/Beta-thalassemia, autosomal dominant Beta-thalassemia and atypical Beta-Thalassemia. | ||
==Pathophysiology== | |||
Beta-Thalassemia is an inherited disorder in hemoglobulin production due to a variety of genetic mutations in the gene responsible for Beta-globin production (HBB gene, on chromosome 11). The effects of beta-thalassemia on red blood cell morphology and function are significantly detrimental. Beta-Thalassemia contributes to abnormal hemoglobin and red blood cells (RBCs) that have impaired function in efficient oxygen delivery to different body tissues, which is called the state of anemia. As mutated genes are passed down, the shortage of functional red blood cells begins affecting the body from early infancy, and the lifelong persistence of insufficiency in beta-globin production results in chronic anemia. Hepatosplenomegaly, delayed developmental milestones, jaundice, bone problems, and different infections might happen in early infancy. | |||
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Revision as of 06:13, 22 August 2023
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maryam Hadipour, M.D.[2]
Overview
Historical Perspective
The Thalassemia term was invented by an hematologist, Dr. Thomas Cooley, in 1925. It has a Greek origin and consists of Thalassa and Emia which mean sea and blood, respectively. The diagnostic certainty was ultimately established with hemoglobin electrophoresis in the 20th century.
Classification
Beta-Thalassemia is classified based on the severity and the type of responsible mutation. It mainly has 3 types: β thalassemia minor, β thalassemia major, Thalassemia intermedia. There are less common types such as E/Beta-thalassemia, autosomal dominant Beta-thalassemia and atypical Beta-Thalassemia.
Pathophysiology
Beta-Thalassemia is an inherited disorder in hemoglobulin production due to a variety of genetic mutations in the gene responsible for Beta-globin production (HBB gene, on chromosome 11). The effects of beta-thalassemia on red blood cell morphology and function are significantly detrimental. Beta-Thalassemia contributes to abnormal hemoglobin and red blood cells (RBCs) that have impaired function in efficient oxygen delivery to different body tissues, which is called the state of anemia. As mutated genes are passed down, the shortage of functional red blood cells begins affecting the body from early infancy, and the lifelong persistence of insufficiency in beta-globin production results in chronic anemia. Hepatosplenomegaly, delayed developmental milestones, jaundice, bone problems, and different infections might happen in early infancy.