Blood. 1990 Feb 15;75(4):1000-5.

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

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

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Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.

Abstract

A new deletion of the beta-globin gene cluster has been characterized in two Italian brothers who are heterozygous carriers of a G gamma A gamma 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 delta gene and ends within the enhancer region 3' to the beta-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 delta beta-thalassemia phenotype suggests that the residual enhancer element, relocated near gamma genes, may increase the fetal hemoglobin (HbF) expression above the level observed in delta beta-thalassemia.

PMID:: 1689188; [PubMed - indexed for MEDLINE]

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The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the beta-globin gene cluster. [Blood. 1989]
The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the beta-globin gene cluster.
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Sequences located 3' to the breakpoint of the hereditary persistence of fetal hemoglobin-3 deletion exhibit enhancer activity and can modify the developmental expression of the human fetal A gamma-globin gene in transgenic mice.
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Ottolenghi S, Giglioni B, Taramelli R, Comi P, Mazza U, Saglio G, Camaschella C, Izzo P, Cao A, Galanello R, et al. Proc Natl Acad Sci U S A. 1982 Apr; 79(7):2347-51.
Review Delta beta thalassemia and hereditary persistence of fetal hemoglobin. [Hematol Oncol Clin North Am. 1...]
Review Delta beta thalassemia and hereditary persistence of fetal hemoglobin.
Bollekens JA, Forget BG. Hematol Oncol Clin North Am. 1991 Jun; 5(3):399-422.
Review Molecular basis of hereditary persistence of fetal hemoglobin. [Ann N Y Acad Sci. 1998]
Review Molecular basis of hereditary persistence of fetal hemoglobin.
Forget BG. Ann N Y Acad Sci. 1998 Jun 30; 850:38-44.

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Cited by 2 PubMed Central articles

Sequences in the (A)gamma-delta intergenic region are not required for stage-specific regulation of the human beta-globin gene locus. [Proc Natl Acad Sci U S A. 2003]
Sequences in the (A)gamma-delta intergenic region are not required for stage-specific regulation of the human beta-globin gene locus.
Gaensler KM, Zhang Z, Lin C, Yang S, Hardt K, Flebbe-Rehwaldt L. Proc Natl Acad Sci U S A. 2003 Mar 18; 100(6):3374-9. Epub 2003 Mar 10.
Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. [EMBO J. 1999]
Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression.
Calzolari R, McMorrow T, Yannoutsos N, Langeveld A, Grosveld F. EMBO J. 1999 Feb 15; 18(4):949-58.

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