A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' β-globin gene enhancer

C. Camaschella, A. Serra, E. Gottardi, A. Alfarano, D. Revello, U. Mazza, G. Saglio

Research output: Contribution to journalArticle

Abstract

A new deletion of the β-globin gene cluster has been characterized in two Italian brothers who are heterozygous carriers of a (G)γ(A)γ hereditary persistence of fetal hemoglobin (HPFH). Restriction endonuclease mapping and DNA sequencing of the region encompassing the breakpoint show that the deletion starts 3.2 kilobases (kb) upstream from the δ gene and ends within the enhancer region 3' to the β-globin gene. Here the deletion removes one of the four binding sites for an erythroid specific transcriptional factor (NF-E1). The molecular comparison of the new deletion with others of similar size and location but associated with a δβ-thalassemia phenotype suggests that the residual enhancer element, relocated near γ genes, may increase the fetal hemoglobin (HbF) expression above the level observed in δβ-thalassemia.

Original languageEnglish
Pages (from-to)1000-1005
Number of pages6
JournalBlood
Volume75
Issue number4
Publication statusPublished - 1990

ASJC Scopus subject areas

  • Hematology

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    Camaschella, C., Serra, A., Gottardi, E., Alfarano, A., Revello, D., Mazza, U., & Saglio, G. (1990). A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' β-globin gene enhancer. Blood, 75(4), 1000-1005.