|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The finding that the number of gamma-globin genes in beta-thalassemia DNA is similar to that in nonthalassemia DNA indicates that a deletion of gamma-globin genes cannot account for either the inadequate gamma-globin synthesis or indirectly for the decreased or absent beta-globin synthesis in beta-thalassemia cells.
|
993355 |
1976 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
In time course experiments performed in subjects carrying haemoglobin Hasharon and beta-thalassaemia the synthesis of alphaA-, alphaHasharon-, beta- and gamma-globin has been determined.
|
698126 |
1978 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia.
|
6183586 |
1982 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data establish that different alterations affecting one specific nucleotide can produce either an abnormal hemoglobin or beta-thalassemia.
|
6310991 |
1983 |
|
beta Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Variations in hematologic values and in Hb F, Ggamma, and Hb A2 levels of relatives with a beta-thalassemia heterozygosity depended to some extent on the types of mutations or deletions and on the haplotypes of the chromosomes with the beta-thalassemia determinant.
|
2458145 |
1988 |
|
beta Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The similarity of the 5' and 3' breakpoints of these delta beta-thalassemias underscores the putative regulatory role of the deleted and juxtaposed sequences on the expression of the gamma-globin genes in adult life.
|
2458154 |
1988 |
|
beta Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Because butyrate and alpha-amino-n-butyric acid (ABA) augment gamma globin expression in normal neonatal and adult erythroid progenitors, we investigated the effects of sodium butyrate and ABA on erythroid progenitors of patients with beta thalassemia and sickle cell anemia who might benefit from such an effect.
|
2473801 |
1989 |
|
beta Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We have developed a technique to diagnose the alpha- and beta-thalassemia (thal) syndromes using the polymerase chain reaction to amplify cDNA copies of circulating erythroid cell messenger RNA (mRNA) so as to quantitate the relative amounts of alpha-, beta-, and gamma-globin mRNA contained therein.
|
1932755 |
1991 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The beta+ IVS-I nt 6 of the beta-globin gene and the C----T substitution at position -158 5' of the G gamma-globin gene were detected more frequently in patients with thalassemia intermedia or late-presenting thalassemia major considered together as compared to those affected by typical transfusion-dependent thalassemia major.
|
1725229 |
1991 |
|
beta Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have sequenced the 5' hypersensitive-2 (5'HS-2) site of the locus control region (LCR) and the promoters of the two gamma-globin genes located on chromosome 11 of a black patient with mild beta-thalassemia (beta-thal) major due to a homozygosity for the C----T mutation at position -88 of the beta promoter and with a high Hb F level.
|
1384315 |
1992 |
|
beta Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nearly all patients were transfused, which made quantitation of Hb F impossible; high G gamma values were present in the Hb F of those patients whose beta-thalassemia chromosome carried the C-->T mutation at position -158 in the promoter of the G gamma-globin gene.
|
1483699 |
1992 |
|
beta Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inheritance of a beta-thalassaemia chromosome with Xmn I cleavage site at position -158 of the G gamma-globin gene which was linked to the haplotype -+-++ or ++-++, was associated with a milder anaemia.
|
7686036 |
1993 |
|
beta Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify which of these factors may contribute to the modification of childhood homozygous, high-hemoglobin A2 (HbA2) beta-thalassemia in Greece, the interaction of alpha-thalassemia, types of beta-thalassemia mutations, and the presence of a polymorphic site 5' to the G gamma-globin gene, which has been described as associated with increased gamma-globin chain production in some cases, was assessed.
|
7703040 |
1995 |
|
beta Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The types of SCD reported were as follows: compound heterozygotes HbS-beta thalassemia, (S-Th, 518 cases); homozygotes for HbS, (S-S, 149 cases); compound heterozygotes HbS and another abnormal hemoglobin (21 cases).
|
9830795 |
1998 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The determination of the molecular pathology of 754 beta-thalassemia and 42 abnormal hemoglobin genes and analysis of the frequency distribution in six distinct regions of Turkey was accomplished.
|
9495372 |
1998 |
|
beta Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thus, the heterocellular gamma globin expression together with in vivo preferential survival of HbF-containing erythroid cells ameliorates Cooley's anemia in the beta(o) thalassemia homozygotes.
|
11559936 |
2001 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Along with this abnormal hemoglobin, HbS and beta-thalassemia were also found.
|
12764548 |
2003 |
|
beta Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We report in this paper that the DNA-binding drug mithramycin is a potent inducer of gamma-globin mRNA accumulation and fetal hemoglobin (HbF) production in erythroid cells from healthy human subjects and beta-thalassemia patients.
|
12738678 |
2003 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Transgenic mice heterozygous for a deletion beta thalassemia and hemizygous for a human gamma globin transgene were treated with these compounds and hematologic responses as well as the induction of gamma gene expression were evaluated.
|
16338486 |
2005 |
|
beta Thalassemia
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
In this review, we discuss the role of DNA methylation in gamma-globin gene regulation, describe clinical trials with agents that hypomethylate DNA and speculate about the future role of DNA hypomethylation therapy in patients with SCD and beta-thalassemia.
|
16513230 |
2006 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Toward the continuing goal of developing retrovirus vectors for the treatment of the beta-chain hemoglobinopathies, we report here the assessment of a recombinant gammaretrovirus vector for human gamma-globin in murine models of beta-thalassemia.
|
16814578 |
2006 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Effects of human gamma-globin in murine beta-thalassaemia.
|
16803575 |
2006 |
|
beta Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The ability of rapamycin to preferentially increase gamma-globin mRNA content and production of HbF in erythroid precursor cells from beta-thalassaemia patients is of great importance as this agent (also known as sirolimus or rapamune) is already in clinical use as an anti-rejection agent following kidney transplantation.
|
16939628 |
2006 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Expression of the gamma-globin gene is sustained by the cAMP-dependent pathway in beta-thalassaemia.
|
17614826 |
2007 |
|
beta Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thus, we believe that the poor clinical response in a majority of patients with beta-Thal to inducers of gamma-globin expression may be a reflection of unfavorable effects of these agents on the other globin genes.
|
19346141 |
2009 |