Modulation of the phenotypic diversity of sickle cell anemia.
Sickle cell anemia is noted for being phenotypically heterogeneous. This suggests that there are genetic influences that moderate the effects of the sickle hemoglobin mutation. In this review I focus on genetically determined modulation of hemoglobin concentration and fetal hemoglobin levels. Each of these variables has important influences upon sickle hemoglobin polymerization and the resulting pathophysiology.
Steinberg
M H
MH
Department of Medicine, University of Mississippi School of Medicine, Jackson 39216, USA.
D000755:Anemia, Sickle Cell / Q000235:genetics*; D005319:Fetal Hemoglobin / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D010641:Phenotype; D017085:alpha-Thalassemia / Q000235:genetics*
D005319:Fetal Hemoglobin