The genetics of thalassemia.
Two newly developed techniques have greatly enlarged our knowledge of the basic genetic defects of the beta-thalassemias: 1) Restriction enzyme digestion of cellular DNA followed by analysis of the cleaved fragments. 2) Cloning of beta-globin genes from patients with beta-thalassemia and subsequent determination of the nucleotide sequence of these genes. Some of the results are presented. Only rarely a deletion of the beta-globin gene was found. In most cases, a mutation within the beta-globin gene was discovered as basis for the beta-thalassemia syndrome. These and other findings are a starting point for planning a therapy of beta-thalassemia by means of gene technology: correction of the defect within the abnormal beta-globin gene, replacement of the beta-globin gene, stimulation of gamma-globin synthesis.
D004262:DNA Restriction Enzymes; D004274:DNA, Recombinant; D006580:Genetic Carrier Screening; D005914:Globins / Q000096:biosynthesis / Q000235:genetics; D006801:Humans; D009154:Mutation; D014176:Protein Biosynthesis; D013789:Thalassemia / Q000145:classification / Q000235:genetics* / Q000628:therapy
D004274:DNA, Recombinant; D005914:Globins; D004262:DNA Restriction Enzymes