What happens in human thalassemias? -reduce alpha globin synthesis, reduce beta globin synthesis, enhance alpha and beta globin synthesis
Answers
Answer:
The disorder results in excessive destruction of red blood cells, which leads to anemia. ... In beta thalassemia, the beta globin genes are affected.
Answer:
Microcytic Disorders
Indu Singh PhD, ... Gasim Dobie PhD, in Haematology Case Studies with Blood Cell Morphology and Pathophysiology, 2017
Pathophysiology of Beta Thalassemia Minor
Mutations in globin genes cause thalassemias. Beta thalassemia affects one or both of the β-globin genes. These mutations result in the impaired synthesis of the β-globin protein portion, a component of Hb, thus causing anaemia. The genetic defect usually is a missense or nonsense mutation in the β-globin gene, although occasional defects due to gene deletions of the β-globin gene and surrounding regions also have been reported.
In beta thalassemia minor (i.e. beta thalassemia trait or heterozygous carrier type), one of the β-globin genes is defective. The defect can be a complete absence of the β-globin protein (i.e. beta-zero thalassemia) or a reduced synthesis of the β-globin protein (i.e. beta-plus thalassemia)