Alpha globin gene analysis in a Sardinian family with interacting alpha and beta thalassaemia genes.
This paper reports the results of alpha globin gene analysis in a Sardinian family with interacting alpha and beta thalassaemia genes. The propositus, who was identified in a newborn survey as he had 26.0% Hb Bart's and 74.0% Hb F, successively developed the clinical and haematological picture of a transfusion-dependent thalassaemia major. According to the haemoglobin pattern, restriction endonuclease analysis of the DNA from this patient showed the deletion of three of the four alpha-globin structural genes. Thus beta 0-thalassaemia homozygotes with the delection of three alpha-structural genes seem to have a severe clinical phenotype similar to that of patients with a full complement of four alpha-globin structural genes.
D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D010641:Phenotype; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes