Genetic modifiers of sickle cell disease
MH Steinberg, P Sebastiani - American journal of hematology, 2012 - Wiley Online Library
American journal of hematology, 2012•Wiley Online Library
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 …
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 …
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. Am. J. Hematol. 2012. © 2012 Wiley Periodicals, Inc.
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