Thalassemia, Beta Background & Genetics Inherited blood disorder caused by reduced synthesis of β globin chain. Autosomal recessive condition Caused by mutation in the beta globin gene (HBB), located on chromosome 11p15. β Thalassemia Trait/Minor: Mutation present in only one copy of the gene pair. β Thalassemia Major & Intermedia: Mutation present in both copies of the gene pair. Salient Features β Thalassemia Trait/Minor: Mild microcytic hypochromic anemia. β Thalassemia Major: Presents sfter 6 months of age. Severe haemolytic anemia, jaundice, hepatosplenomegaly, bone changes due to extramedullary hematopoeisis and complications of iron overload secondary to repeated transfusions. β Thalassemia Intermedia: Presents at a later age. Not as severe as β Thalassemia Major.
Posted on: Tue, 03 Sep 2013 07:31:42 +0000
Trending Topics
Recently Viewed Topics
© 2015