|
Hemoglobinopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In a study ambispective comprising 1623 patients, 153 subjects showed an abnormal hemoglobin and 1470 with hypochromic and microcytic anemia, and of these 1470, 23 patients were studied for simultaneously α-thalassemias and structural hemoglobinopathies.
|
31025160 |
2019 |
|
Hemoglobinopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We assessed the effect of sodium phenylbutyrate and sodium valproate, two histone deacetylase inhibitors (HDIs) that are being studied for the treatment of hemoglobinopathies, on the expression of AHSP, BCL11A (all isoforms), γ-globin genes (HBG1/2), and some related transcription factors including GATA1, NFE2, EKLF, KLF4, and STAT3.
|
29389946 |
2018 |
|
Hemoglobinopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Pharmacologic augmentation of γ-globin expression sufficient to reduce anemia and clinical severity in patients with diverse hemoglobinopathies has been challenging.
|
26603726 |
2016 |
|
Hemoglobinopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The clinical symptoms of hemoglobin disorders such as β-thalassemia and sickle cell anemia are significantly ameliorated by the persistent expression of γ-globin after birth.
|
24371119 |
2014 |
|
Hemoglobinopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Fetal globin (gamma globin; HBG) is normally expressed during fetal life and prevents the clinical manifestations of beta hemoglobinopathies before birth.
|
24589264 |
2014 |
|
Hemoglobinopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
After nearly two decades of struggle, gene therapy for hemoglobinopathies using vectors carrying β or γ-globin gene has finally reached the clinical doorsteps.
|
24589262 |
2014 |
|
Hemoglobinopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Thus Hb F is regulated in IBMFS by Xmn1-HBG2, as it is in the haemoglobinopathies.
|
23713742 |
2013 |
|
Hemoglobinopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The understanding of the developmental regulation of γ-globin gene expression was followed by the identification of a number of chemical compounds that can reactivate HbF synthesis in vitro and in vivo in patients with hemoglobin disorders.
|
21075284 |
2010 |
|
Hemoglobinopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Pharmacological treatments designed to reactivate fetal γ-globin can lead to an effective and successful clinical outcome in patients with hemoglobinopathies.
|
20837550 |
2010 |
|
Hemoglobinopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Qualitative hemoglobinopathies due to (G)gamma and (A)gamma chain structural variants, and quantitative hemoglobinopathies affecting the synthesis of HbF such as gamma-thalassemias, duplications, triplications, and even sextuplications of the gamma-globin genes, which may be detected in newborn blood lysates, have been described.
|
18379999 |
2008 |
|
Hemoglobinopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
In hemoglobinopathies, treatment with demethylating agents leads to reactivation of fetal HbF (the gamma-globin gene locus also possibly being another target for reactivation in MDS), and thus, HbF may potentially act as surrogate marker for activity of decitabine.
|
16292549 |
2005 |
|
Hemoglobinopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The method has additional potential for the study of gamma-globin mRNA levels or the frequency of adult NRBC (F cells) in patients with hemoglobinopathies.
|
12533814 |
2003 |
|
Hemoglobinopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
These findings identify SCFADs that stimulate gamma globin gene expression and erythropoiesis in vivo, activities that are synergistically beneficial for treatment of the beta hemoglobinopathies and useful for the oral treatment of other anemias.
|
12393583 |
2002 |
|
Hemoglobinopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Valproic acid, trichostatin and their combination with hemin (all three FDA-approved drugs) preferentially increase gamma-globin chain synthesis and may be helpful for the treatment of hemoglobinopathies.
|
11454524 |
2001 |
|
Hemoglobinopathies
|
0.100 |
Biomarker
|
group |
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 |
|
Hemoglobinopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Pharmacologic agents such as hydroxyurea (HU), N, 3-4 trihydroxybenzamide (didox), and isobutyramide (ISB) can elevate gamma-globin as a potential treatment for the beta-hemoglobinopathies.
|
10575551 |
1999 |
|
Hemoglobinopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
The fact that valproic acid, a derivative of pentanoic acid, also induces gamma-globin expression suggests that short-chain fatty acid derivatives that are already approved for human use may possess the property of gamma-globin inducibility and may be of therapeutic relevance to the beta-chain hemoglobinopathies.
|
7579419 |
1995 |
|
Hemoglobinopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
During three months, 67.2% of all (748) newborns were screened: 122 (24.3%) had an abnormal hemoglobin pattern, of which 53 (43.4%) had a hemoglobinopathy (HbS or HbC), 64 (52.2%) had alpha-thalassemia (HbBarts greater than 0.5%, corresponding to heterozygous or homozygous alpha-thalassemia-2), and 5 (4.1%) had a hemoglobinopathy plus alpha-thalassemia.
|
1526026 |
1992 |