Molecular diagnosis of A gamma hereditary persistence of fetal hemoglobin using polymerase chain reaction and oligonucleotide analysis.

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

Haematologica

journal_title

Haematologica

authors

Gottardi E,Alfarano A,Serra A,Sciarratta G,Bertero MT,Saglio G,Camaschella C

subject

Has Abstract

pub_date

1990-01-01 00:00:00

pages

17-20

issue

1

eissn

0390-6078

issn

1592-8721

journal_volume

75

pub_type

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