A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia.
This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.
D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D006443:Hemoglobin A2