Abstract:
:By combining the polymerase chain reaction (PCR) of the gamma globin gene promoters with synthetic oligonucleotide analysis we have diagnosed the -196 C----T and the -117 G----A substitutions in heterozygous carriers of non deletional A gamma HPFH from two unrelated Italian families. The identification of the beta-thalassemic defect in a compound heterozygote for -196 A gamma HPFH/beta thalassemia allows us to discuss the effect of this gamma promoter mutation on the globin chain synthetic pattern, and to make a comparison with the mutation at the -117 position.
journal_name
Haematologicajournal_title
Haematologicaauthors
Gottardi E,Alfarano A,Serra A,Sciarratta G,Bertero MT,Saglio G,Camaschella Csubject
Has Abstractpub_date
1990-01-01 00:00:00pages
17-20issue
1eissn
0390-6078issn
1592-8721journal_volume
75pub_type
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