Multiple mutations produce delta beta 0 thalassemia in Sardinia.
In Sardinia the common form of beta thalassemia is a beta 0 thalassemia due to a nonsense mutation at codon 39. delta beta 0 Thalassemia is rare in Sardinia and is associated with increased production of hemoglobin F of the A gamma type. In this study we used a synthetic oligomer assay and detected the beta 39 nonsense mutation on the delta beta 0 thalassemia chromosome. Hence at least two different mutations have occurred on this chromosome; one that increases A gamma globin synthesis and another that silences the beta globin gene.
D002877:Chromosomes, Human; D005319:Fetal Hemoglobin / Q000235:genetics; D005796:Genes; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D007558:Italy; D009154:Mutation; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin