|
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Oridonin enhances γ‑globin expression in erythroid precursors from patients with β‑thalassemia via activation of p38 MAPK signaling.
|
31789406 |
2020 |
|
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 |
After they received information about thalassemia, they were screened for beta-thalassemia and abnormal hemoglobin using complete blood count (CBC) and quantification of hemoglobin.Hemoglobin was fractionated using HPLC.
|
22897698 |
2012 |
|
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 |
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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
The mutation appears to be the main candidate responsible for the beta thalassemia-ameliorating effect as this segregates with the observed phenotype and also exogenous expression of the KLF1 mutant protein in human erythroid progenitor cells resulted in the induction of γ-globin, without, however, affecting BCL11A levels.
|
31115947 |
2019 |
|
beta Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Enhanced fetal γ-globin synthesis alleviates symptoms of β-globinopathies such as sickle cell disease and β-thalassemia, but current γ-globin-inducing drugs offer limited beneficial effects.
|
23416702 |
2013 |
|
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 |
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 |
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 |
Disruption of SOX6 gene using CRISPR/Cas9 technology for gamma-globin reactivation: An approach towards gene therapy of β-thalassemia.
|
30010219 |
2018 |
|
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 |
|
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 |
Disorders resulting from mutations in the hemoglobin subunit beta gene (HBB; which encodes β-globin), mainly sickle cell disease (SCD) and β-thalassemia, become symptomatic postnatally as fetal γ-globin expression from two paralogous genes, hemoglobin subunit gamma 1 (HBG1) and HBG2, decreases and adult β-globin expression increases, thereby shifting red blood cell (RBC) hemoglobin from the fetal (referred to as HbF or α2γ2) to adult (referred to as HbA or α2β2) form.
|
27525524 |
2016 |
|
beta Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Seventy-six percent of the fetuses were at risk for β-thalassemia major and 16% for sickle cell anemia; only a small percentage (7%) were at risk for compound heterozygosity of β-thalassemia and an abnormal hemoglobin of the β chain.
|
20863160 |
2011 |
|
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 |
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 |
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 |
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 |
These data could have practical relevance, because pharmacologically mediated regulation of human gamma-globin gene expression, with the consequent induction of fetal hemoglobin, is considered a potential therapeutic approach in hematological disorders including beta-thalassemia and sickle cell anemia.
|
19777196 |
2009 |
|
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 |