Book Chapter
Genotypes of sickle cell disease
Fecha
2013Autor
Perea-Diaz, F.J.
Ibarra-Cortes, B.
Institución
Resumen
In this chapter, we will discuss the genotypes and phenotypes associated with the sickle syndromes. There are four major genotypes for sickle diseases, including sickle cell trait, sickle cell anemia, and compound sickle-cell-beta-thalassemia and sickle cell-abnormal hemoglobin variants. We mention the main clinical complications observed in different genotypes as a way to emphasize the phenotypic variability of sickle syndromes. We also briefly discuss the tracing of HbS mutations by haplotype and its use as a predictor of clinical severity. We will describe HbF and some genes involved in regulating its expression, all which are considered modulators of clinical severity in patients with sickle cell diseases. Finally, we will discuss the effect of alpha-thalassemia in some clinical complications associated with sickle cell diseases. � 2013 by Nova Science Publishers, Inc. All rights reserved.