Sardinian (G)γ-HPFH: A T → C substitution in a conserved 'octamer' sequence in the (G)γ-globin promoter

S. Ottolenghi, S. Nicolis, R. Taramelli, N. Malgaretti, R. Montovani, P. Comi, B. Giglioni, M. Longinotti, F. Dore, L. Oggiano, P. Pistidda, A. Serra, C. Camaschella, G. Saglio

Research output: Contribution to journalArticlepeer-review


A survey of hemoglobinopathies in Northern Sardinia allowed the identification of two subjects heterozygous for a new type of G(γ) hereditary persistence of fetal hemoglobin (HPFH). The G(γ)-globin gene from the HPFH chromosome showed the presence of a T → C substitution 175 nucleotides upstream of the CAP site, adding a new example of single-point mutations occurring in the promoter region of the γ-globin genes and linked to HPFH phenotypes. In this case the mutation affects the 3' end nucleotide of a conserved octamer sequence known to be present in other regulatory elements of several genes.

Original languageEnglish
Pages (from-to)815-817
Number of pages3
Issue number3
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Hematology

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