|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
First, transcription factors, BCL11A and LRF/ZBTB7A, that mediate silencing of the β-like fetal (γ-) globin gene after birth have been identified and demonstrated to act at the γ-globin promoters, precisely at recognition sequences disrupted in rare individuals with hereditary persistence of fetal hemoglobin.
|
30355263 |
2019 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Some forms of hereditary persistence of fetal hemoglobin (HPFH), a rare benign condition in which individuals express the γ-globin gene throughout adulthood, are caused by point mutations in the γ-globin gene promoter at regions residing ~115 and 200 bp upstream of the transcription start site.
|
29610478 |
2018 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations within the β-globin CCAAT box result in β-thalassaemia, while mutations within the distal γ-globin CCAAT box cause the Hereditary Persistence of Foetal Haemoglobin, a benign condition which results in continued γ-globin expression during adult life.
|
27718361 |
2017 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For example, in hereditary persistence of fetal hemoglobin (HPFH), a benign genetic condition, mutations attenuate γ-globin-to-β-globin switching, causing high-level HbF expression throughout life.
|
27525524 |
2016 |
|
Hemoglobin F Disease
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Influence of Xmn 1(G)γ (HBG2 c.-211 C → T) Globin Gene Polymorphism on Phenotype of Thalassemia Patients of North India.
|
25435729 |
2014 |
|
Hemoglobin F Disease
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Two novel mutations (HBG1: c.-250C > T and HBG2: c.-250C > T) associated with hereditary persistence of fetal hemoglobin.
|
24144231 |
2014 |
|
Hemoglobin F Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
However, expression of the functional γ-globin subunit in adults, a benign condition called hereditary persistence of fetal hemoglobin (HPFH), can ameliorate the severity of these disorders, but this expression is normally silenced.
|
23337982 |
2013 |
|
Hemoglobin F Disease
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
|
19050890 |
2009 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.
|
18096417 |
2008 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, certain point mutations in the gamma-globin gene promoter are capable of maintaining expression of this gene during adult erythropoiesis, a condition called non-deletion hereditary persistence of fetal hemoglobin (HPFH).
|
17114178 |
2007 |
|
Hemoglobin F Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In addition, our findings provide a mechanism for understanding the high levels of gamma-globin transcription seen in patients with Hereditary Persistence of Fetal Hemoglobin, and help explain why 5azaC and butyrate compounds stimulate gamma-globin expression in patients with beta-hemoglobinopathies.
|
17183675 |
2006 |
|
Hemoglobin F Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The genetic mechanisms underlying the continued expression of the gamma-globin genes during the adult stage in deletional hereditary persistence of fetal hemoglobin (HPFH) and deltabeta-thalassemias are not completely understood.
|
16952470 |
2006 |
|
Hemoglobin F Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In order to address these problems, we investigated an enhancer element identified from individuals with deletional hereditary persistence of fetal hemoglobin 2 (HPFH2), a genetic condition characterized by elevated levels of gamma-globin in adults.
|
15944728 |
2005 |
|
Hemoglobin F Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
One mutation in a DR1 site causes elevated gamma-globin transcription in human HPFH (hereditary persistence of fetal hemoglobin) syndrome, and we show that this mutation reduces TR2/TR4 binding in vitro.
|
12093744 |
2002 |
|
Hemoglobin F Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of gamma-globin genes persists into adult life.
|
11285460 |
2001 |
|
Hemoglobin F Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Hereditary persistence of fetal hemoglobin (HPFH) is one of the hemoglobinopathies in which the fetal gamma-globin genes remain active in adult life.
|
11074532 |
2000 |
|
Hemoglobin F Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In a group of disorders called hereditary persistence of fetal hemoglobin (HPFH), expression of the gamma-globin gene of HbF persists at high levels in adult erythroid cells.
|
9668525 |
1998 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An intramolecular triplex in the human gamma-globin 5'-flanking region is altered by point mutations associated with hereditary persistence of fetal hemoglobin.
|
7592674 |
1995 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
G gamma A gamma (beta+) hereditary persistence of fetal hemoglobin: the G gamma -158 C-->T mutation in cis to the -175 T-->C mutation of the A gamma-globin gene results in increased G gamma-globin synthesis.
|
7679879 |
1993 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The -198 T-->C and the -175 T-->C transitions involving the proximal gamma-globin gene promoter are associated with the hereditary persistence of fetal hemoglobin (HPFH) phenotype and have been demonstrated to increase promoter activity in erythroid cells using transient and stable transfection systems.
|
7686501 |
1993 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this system expression of the G gamma-globin gene bearing the point mutation found in a Japanese patient of hereditary persistence of fetal hemoglobin (HPFH) (1) persisted at a equivalent level to beta-globin expression in fetal and adult mice.
|
7687430 |
1993 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most common forms of hereditary persistence of fetal hemoglobin synthesis (HPFH) and delta beta zero-thalassemia result from simple deletions of the beta-globin gene cluster or from point mutations in the gamma-globin gene promoters.
|
1571556 |
1992 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three gamma-globin promoters containing mutations associated with hereditary persistence of fetal hemoglobin (HPFH), -202 C----G, -196 C----T and -117 G----A, were not overexpressed in K562 cells, consistent with the hypothesis that these promoters are not overexpressed in fetal erythroblasts, only in adult red cells.
|
2291547 |
1990 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of the gamma-globin gene locus from a patient with the deletion form of hereditary persistence of fetal hemoglobin.
|
1688505 |
1990 |
|
Hemoglobin F Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three gamma-globin promoters containing mutations associated with hereditary persistence of fetal hemoglobin (-202 C----G, -196 C----T, and -117 G----A) were not overexpressed in the K562 cell environment, consistent with the hypothesis that these promoters are not overexpressed in fetal erythroblasts, only adult erythroid cells.
|
1689192 |
1990 |