The homozygous state of G to A - 117(A)γ hereditary persistence of fetal hemoglobin

C. Camaschella, L. Oggiano, M. Sampietro, E. Gottardi, A. Alfarano, P. Pistidda, F. Dore, R. Taramelli, S. Ottolenghi, M. Longinotti

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Abstract

During a study of Sardinian families with hereditary persistence of fetal hemoglobin (HPFH), two unrelated subjects with unusually elevated Hb F levels were identified. By selective amplification of the (A)γ gene promoter and hybridization to synthetic oligonucleotides, we demonstrate that these subjects are homozygous for the -117(A)γ G → A substitution that is responsible for a form of nondeletional HPFH. The hemoglobin synthetic pattern of these patients is discussed.

Original languageEnglish
Pages (from-to)1999-2002
Number of pages4
JournalBlood
Volume73
Issue number7
Publication statusPublished - 1989

ASJC Scopus subject areas

  • Hematology

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    Camaschella, C., Oggiano, L., Sampietro, M., Gottardi, E., Alfarano, A., Pistidda, P., Dore, F., Taramelli, R., Ottolenghi, S., & Longinotti, M. (1989). The homozygous state of G to A - 117(A)γ hereditary persistence of fetal hemoglobin. Blood, 73(7), 1999-2002.