Review: the sickle hemoglobinopathies--genetic analyses of common phenocopies and new molecular approaches to treatment.
Within the very large group of sickle cell hemoglobinopathies several phenocopy clusters exist. These can be conveniently classified as: 1) conditions in which HbA and S are present, 2) disorders where HbS is the predominant hemoglobin, and 3) the HbSF phenotype. This review will focus on distinguishing the genotype of these common phenocopies as well as new potential approaches to therapy.
D000755:Anemia, Sickle Cell / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000818:Animals; D001374:Azacitidine / Q000494:pharmacology; D005319:Fetal Hemoglobin / Q000235:genetics; D005786:Gene Expression Regulation / Q000187:drug effects; D005838:Genotype; D005914:Globins / Q000235:genetics; D006441:Hemoglobin A / Q000235:genetics; D006443:Hemoglobin A2 / Q000235:genetics; D006450:Hemoglobin SC Disease / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D010641:Phenotype; D012805:Sickle Cell Trait / Q000235:genetics; D013789:Thalassemia / Q000235:genetics
D006451:Hemoglobin, Sickle; D005914:Globins; D006441:Hemoglobin A; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin; D001374:Azacitidine