Thalassaemia intermedia: a new molecular basis.
A 5-year-old child heterozygous for beta thalassaemia has the clinical picture of thalassaemia intermedia. Restriction endonuclease mapping shows that the child is homozygous for a triplicated alpha gene complex. The greater degree of globin chain imbalance resulting from two additional alpha chain genes is the likely mechanism for this unusually severe clinical phenotype.
D002675:Child, Preschool; D002874:Chromosome Mapping; D004247:DNA / Q000097:blood; D004262:DNA Restriction Enzymes; D005796:Genes; D005914:Globins / Q000096:biosynthesis; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes