Predicting clinical severity in sickle cell anaemia.
The ability to predict the phenotype of an individual with sickle cell anaemia would allow a reliable prognosis and could guide therapeutic decision making. Some risk factors for individual disease complications are known but are insufficiently precise to use for prognostic purposes; predicting the global disease severity is not yet possible. Genetic association studies, which attempt to link gene polymorphisms with selected disease subphenotypes, may eventually provide useful methods of foretelling the likelihood of certain complications and allow better individualized treatment.
Steinberg
M H
MH
Department of Medicine, Boston University School of Medicine and the Center of Excellence in Sickle Cell Disease, Boston Medical Center, 88 E. Newton Street, Boston, MA 02118, USA. mhsteinb@bu.edu
D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics* / Q000473:pathology; D000986:Antisickling Agents / Q000627:therapeutic use; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D020022:Genetic Predisposition to Disease; D005914:Globins / Q000032:analysis; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D006976:Hypertension, Pulmonary / Q000150:complications / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011317:Priapism / Q000150:complications / Q000235:genetics; D011379:Prognosis; D020521:Stroke / Q000150:complications / Q000235:genetics; D016896:Treatment Outcome; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics
D000986:Antisickling Agents; D005914:Globins; D005319:Fetal Hemoglobin; D006918:Hydroxyurea