Effect of α-Globin Genotype on the Pathophysiology of Sickle Cell Disease

Abstract

The clinical picture of sickle cell disease is heterogeneous and varies tremendously among patients and in the same patient from time to time. The level of HbF, α-genotype, ß-haplotype, age, sex, and the environment are important factors that modify the clinical picture of sickle cell disease. My paper focuses on the effect of α-globin genotype on the pathophysiology of sickle cell anemia, HbSC disease, and sickle ß-thalassemia. The data indicate that the coinheritance of α-thalassemia results in some beneficial effects and in some harmful effects. Thus, there are trade-offs involved in this interaction in which the salutary effects are undermined by harmful ones.

Key Words:

• α-thalassemia
• HbSC disease
• rhealogy
• sickle-ß-thalassemia
• sickle cell anemia
• sickle cell disease