Pistidda, Paola Matilde and Frogheri, Maria Laura and Guiso, Luciana and Manca, Laura and Dore, Fausto and Mura, L. and Longinotti, Maurizio Roberto (1997) Maximal γ-globin expression in the compound heterozygous state for –175 Gγ HPFH and β039 nonsense thalassaemia: a case study. European Journal of Haematology, Vol. 58 (5), p. 320-325. eISSN 1600-0609. Article.
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The –175 (T→C) Gγ hereditary persistence of fetal haemoglobin is a very rare promoter mutation occurring in Caucasians as well as in African-Americans. Heterozygotes for this non-deletional HPFH show 20% HbF, mostly of Gγ type. We describe here a healthy Sardinian man who coinherited –175 (T→C) Gγ HPFH with the β-thalassaemia codon 39 nonsense mutation in trans; he showed 64% HbF, 100% of Gγ type. Although the β-globin haplotype pattern (II/II) was indicative of the presence of the AγT allele on both chromosomes, the AγT expression was undetectable by HPLC even in red cell populations separated by age. The proband was, moreover, homozygous for the –4 bp deletion at position -225 to -222 of Aγ promoter which has recently been associated with decreased AγT globin expression. These findings suggest that this maximal overexpression of Gγ-globin probably reflects intensified stimulation of the mutated Gγ promoter in this hitherto undescribed genetic condition.
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