Detection of beta and delta globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 beta thalassemia.
Normal HbA2 beta thalassemia in a Greek individual was shown to be due to co-inheritance of beta and delta thalassemias. The genetic defects were characterized by enzymatic amplification of the beta and delta globin genes and direct genomic sequencing. Two children with a typical high HbA2 beta thalassemia trait had inherited the beta thalassemia allele whilst a third child had low-normal HbA2 associated with delta+ thalassemia. Segregation patterns confirmed that the delta+/beta zero thalassemia defects were present in trans.
MRC Molecular Hematology Unit, John Radcliffe Hospital, Oxford, U.K.
R J
RJ
Trent
S L
SL
Thein
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000032:analysis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D004247:DNA; D006443:Hemoglobin A2