title: The pathophysiology and molecular genetics of beta thalassemia.
abstract: Review of the pathophysiology and molecular basis of beta thalassemia reveals that an extremely heterogeneous group of molecular defects can give rise to a relatively uniform clinical and hematological phenotype that is primarily the result of the excess of free alpha-globin chains that accumulate in the face of absent or markedly reduced beta-globin chain synthesis. Despite the molecular heterogeneity, it has been possible to establish highly accurate and efficient DNA-based prenatal diagnosis for beta thalassemia. Important progress is also being made in the area of gene therapy for beta thalassemia.
authors: Department of Medicine, Yale University School of Medicine, New Haven, CT 06510.
authors: B G
authors: BG
authors: Forget
mesh_terms: D004920:Erythropoiesis; D005260:Female; D015316:Genetic Therapy; D005914:Globins / Q000096:biosynthesis / Q000235:genetics; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012333:RNA, Messenger / Q000032:analysis; D017086:beta-Thalassemia / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy
chemical_list: D012333:RNA, Messenger; D005914:Globins