A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia.
We describe a patient originating from Ghana who had combined heterozygous alpha (4.2)thalassemia, alpha alpha alpha anti3.7 triplication, the common delta globin variant HbA2' and a new 65 bp duplication/insertion in exon II of the b globin gene causing beta (0)-thalassemia.
Frischknecht
Hannes
H
Dutly
Fabrizio
F
D000328:Adult; D000595:Amino Acid Sequence; D003062:Codon / Q000235:genetics; D018388:Codon, Terminator; D005091:Exons / Q000235:genetics; D020440:Gene Duplication; D005838:Genotype; D005869:Ghana / Q000208:ethnology; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D050505:Mutant Proteins / Q000737:chemistry / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D003062:Codon; D018388:Codon, Terminator; D006454:Hemoglobins; D050505:Mutant Proteins; D005914:Globins