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: S K Ballas
• Journal: Pediatric pathology & molecular medicine (Pediatr Pathol Mol Med) 2001 Mar-Apr Vol. 20 Issue 2 Pg. 107-21 ISSN: 1522-7952 [Print] United States
• PMID: 12673836 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Globins

Topics

• Adult
• Anemia, Sickle Cell (complications, genetics, physiopathology)
• Ethnicity (genetics)
• Female
• Gene Expression Regulation
• Genotype
• Globins (genetics)
• Hemoglobin SC Disease (complications, genetics)
• Hemorheology
• Humans
• Male
• Middle Aged
• Sequence Deletion
• alpha-Thalassemia (complications, ethnology, genetics)