Journal
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE
Volume 2, Issue 12, Pages -Publisher
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/cshperspect.a011726
Keywords
-
Categories
Ask authors/readers for more resources
The beta-thalassemia syndromes reflect deficient or absent beta-globin synthesis usually owing to a mutation in the beta-globin locus. The relative excess of alpha-globin results in the formation of insoluble aggregates leading to ineffective erythropoiesis and shortened red cell survival. A relatively high capacity for fetal hemoglobin synthesis is a major genetic modifier of disease severity, with polymorphisms in other genes also having a significant role. Iron overload secondary to enhanced absorption and red cell transfusions causes an increase in liver iron and in various other tissues, leading to endocrine and cardiac dysfunction. Modern chelation regimens are effective in removing iron and preserving or restoring organ function.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available