Alpha-globin loci in homozygous beta-thalassemia intermedia.
Homozygous beta-thalassemia intermediate (TI) differs from thalassemia major (TM) in being less severe clinically. Associated alpha-thalassemia could account for the TI phenotype by reducing the alpha/non-alpha chain imbalance. We have analyzed the alpha loci of 9 TI and 11 TM patients by restriction endonuclease mapping. All the TM and 7 of the TI patients have the normal complement of four alpha-globin genes (alpha alpha/alpha alpha). One TI patient has three alpha-globin genes (alpha alpha/-alpha), and another TI patient has five alpha genes (alpha alpha/alpha alpha alpha).
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004262:DNA Restriction Enzymes