The pathophysiology and molecular genetics of beta thalassemia.
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.
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Department of Medicine, Yale University School of Medicine, New Haven, CT 06510.
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
D012333:RNA, Messenger; D005914:Globins