[Beta thalassemia: molecular pathogenesis and clinical variability].

Abstract excerpt

Clinically, homozygous beta-thalassaemia is characterised by a severe anaemia requiring regular transfusion therapy in most patients. However, there is a marked clinical variability ranging from this severe picture to the virtual absence of symptoms and haematological abnormalities. Biochemically...

Topics

• Child
• Cloning, Molecular
• Globins
• Heterozygote
• Homozygote
• Humans
• Mutation
• Spherocytosis, Hereditary
• Thalassemia