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

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Fetal Hemoglobin
Globins
Thalassemia
Genes
Restriction Mapping
Multigene Family
DNA Sequence Analysis
DNA Restriction Enzymes
Binding Sites
Phenotype
DNA

ASJC Scopus subject areas

  • Hematology

Cite this

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.

A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' β-globin gene enhancer. / Camaschella, C.; Serra, A.; Gottardi, E.; Alfarano, A.; Revello, D.; Mazza, U.; Saglio, G.

In: Blood, Vol. 75, No. 4, 1990, p. 1000-1005.

Research output: Contribution to journalArticle

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, vol. 75, no. 4, pp. 1000-1005.
Camaschella C, Serra A, Gottardi E, Alfarano A, Revello D, Mazza U et al. A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' β-globin gene enhancer. Blood. 1990;75(4):1000-1005.
Camaschella, C. ; Serra, A. ; Gottardi, E. ; Alfarano, A. ; Revello, D. ; Mazza, U. ; Saglio, G. / A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' β-globin gene enhancer. In: Blood. 1990 ; Vol. 75, No. 4. pp. 1000-1005.
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