DOI: 10.1111/j.1749-6632.1998.tb10460.x. Molecular Basis of Hereditary Persistence of Fetal Hemoglobin

Molecular Basis of Hereditary Persistence of Fetal Hemoglobin

10.1111/j.1749-6632.1998.tb10460.x

Crossref journal-article

Wiley

Annals of the New York Academy of Sciences (311)

Abstract

Abstract: Increased levels of fetal hemoglobin (HbF) can ameliorate the clinical course of inherited disorders of β‐globin gene expression, such as β thalassemia and sickle cell anemia. In a group of disorders called hereditary persistence of fetal hemoglobin (HPFH), expression of the γ‐globin gene of HbF persists at high levels in adult erythroid cells. Molecular studies of the HPFH syndromes have identified several important regulatory elements for the normal pattern of γ‐globin gene expression. Deletion as well as nondeletion types of HPFH have been identified. The nondeletion types of HPFH are characterized by the presence of point mutations, in the promoter region of one or another γ‐globin gene, that are thought to alter interactions between various transcription factors and the promoter. The deletion types of HPFH are thought to deregulate the normal developmental pattern of γ‐globin gene expression due to the juxtaposition of normally distant cis‐acting factors into the vicinity of the γ genes. These findings have provided us with a more sophisticated understanding of the molecular basis for the persistent γ‐gene expression in these syndromes and point to certain strategies for potential future attempts at gene therapy for β‐globin gene disorders.

Bibliography

FORGET, B. G. (1998). Molecular Basis of Hereditary Persistence of Fetal Hemoglobin. Annals of the New York Academy of Sciences, 850(1), 38â44. Portico.

Authors 1

BERNARD G. FORGET (first)

References 11 Referenced 218

10.1016/S0889-8588(18)30422-2
Forget B. G. & H. A. Pearson. 1995. Hemoglobin synthesis and the thalassemias.InBlood: Principles and Practice of Hematology. R. I. Handin S. E. Lux T. P. Stossel Eds.: 1525‐1590. J. B. Lippincott Philadelphia.
Stamatoyannopoulos G. & A. W. Nienhuis. 1994.InMolecular Basis of Blood Diseases 2nd edit. G. Stamatoyannopoulos A. W. Nienhuis P. W. Majerus H. E. Varmus Eds.: 107‐155. W. B. Saunders Philadelphia.
10.1007/s004390050530
10.1182/blood.V74.6.2178.2178
10.1128/MCB.10.4.1382
10.1128/MCB.17.4.2076
{'issue': '1', 'key': 'e_1_2_5_9_2', 'first-page': '150a', 'article-title': 'Complete sequencing and functional analysis of the HPFH‐6 enhancer: detection of multiple motifs for transcription factors and identification of an open reading frame', 'volume': '88', 'author': 'Kosteas T.', 'year': '1996', 'journal-title': 'Blood'} / Blood / Complete sequencing and functional analysis of the HPFH‐6 enhancer: detection of multiple motifs for transcription factors and identification of an open reading frame by Kosteas T. (1996)
10.1074/jbc.270.17.10256
10.1002/j.1460-2075.1995.tb06979.x
10.1128/MCB.13.6.3272

Dates

Type	When
Created	19 years, 6 months ago (Feb. 6, 2006, 11:37 p.m.)
Deposited	1 year, 11 months ago (Sept. 25, 2023, 6:44 p.m.)
Indexed	1 day, 7 hours ago (Sept. 4, 2025, 9:31 a.m.)
Issued	27 years, 3 months ago (June 1, 1998)
Published	27 years, 3 months ago (June 1, 1998)
Published Online	19 years, 6 months ago (Feb. 7, 2006)
Published Print	27 years, 3 months ago (June 1, 1998)

Funders 0

None

BibTeX

@article{FORGET_1998, title={Molecular Basis of Hereditary Persistence of Fetal Hemoglobin}, volume={850}, ISSN={1749-6632}, url={http://dx.doi.org/10.1111/j.1749-6632.1998.tb10460.x}, DOI={10.1111/j.1749-6632.1998.tb10460.x}, number={1}, journal={Annals of the New York Academy of Sciences}, publisher={Wiley}, author={FORGET, BERNARD G.}, year={1998}, month=jun, pages={38–44} }

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