title: Effect of alpha-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, alpha-genotype, beta-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 alpha-globin genotype on the pathophysiology of sickle cell anemia, HbSC disease, and sickle beta-thalassemia. The data indicate that the coinheritance of alpha-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.
authors.affiliation: Cardeza Foundation for Hematologic Research, Jefferson Medical College, Philadelphia, Pennsylvania, USA.
authors.forename: S K
authors.initials: SK
authors.lastname: Ballas
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006450:Hemoglobin SC Disease / Q000150:complications / Q000235:genetics; D018056:Hemorheology; D006801:Humans; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000150:complications / Q000208:ethnology / Q000235:genetics
chemical_list: D005914:Globins