Year: 2012
Type: review
Abstract: Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Fetal hemoglobin concentration and coincident α thalassemia, both which directly affect the sickle erythrocyte, are the major modulators of the phenotype of disease. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new "druggable" pathophysiologic targets. Genotype-phenotype association studies have been used to identify novel genetic modifiers. In the future, whole genome sequencing with its promise of discovering hitherto unsuspected variants could add to our understanding of the genetic modifiers of this disease.
Source: American Journal of Hematology
DOI: 10.1002/ajh.23232
Authors: Martin H. Steinberg, Paola Sebastiani
Institution: Boston University
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Awards: G1665374463, COMPREHENSIVE SICKLE CELL CENTER, Genome-Wide Association Studies in Sickle Cell Anemia and in Centenarians, G2937757179, Genetic Modulation of Sickle Cell Disease, Genetic Diversity of Sickle Cell Anemia, Interdisciplinary Training for Biostatisticians, Genetic Dissection of Sickle Cell Anemia Phenotypes, Boston Sickle Cell Research Consortium, Determinants of HbF Response to Hydroxyurea, Research Training in Blood Diseases and Resources
OpenAlex ID: W1999608172