Presence of gene for beta globin in homozygous beta0 thalassaemia.
In one southern Italian and one Pakistani patient with homozygous beta0 thalassaemia in which no detectable beta-globin synthesis occurs and no beta-globin messenger RNA is found, the gene for beta globin has been shown to be present using complementary DNA. This demonstrates that for these patients the imbalance in chain synthesis is not attributable to a gene deletion.
D004247:DNA / Q000378:metabolism; D005796:Genes; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis*; D006720:Homozygote; D006801:Humans; D007558:Italy; D009693:Nucleic Acid Hybridization; D010154:Pakistan; D012333:RNA, Messenger / Q000096:biosynthesis / Q000378:metabolism; D013789:Thalassemia / Q000235:genetics* / Q000378:metabolism
D006455:Hemoglobins, Abnormal; D012333:RNA, Messenger; D004247:DNA