Globins

04/15/2011 - "The enormous progress in the technique for β-globin gene analysis permitted to characterize 99.93% of mutated alleles and it has made a first trimester prenatal diagnosis program possible in our region in all cases with a great improvement in thalassemia management. "
11/01/2014 - "Overall survival was not found to be associated with the β-globin gene mutation status, but thalassemia-free survival was significantly improved in patients with homozygous mutations compared with patients with compound heterozygous mutations in univariate (91.2% versus 64.0%, P = .009) and multivariable (hazard ratio, 3.83; P = .014) analyses. "
03/06/2014 - "Thus, we validated a safe and effective procedure for β-globin gene transfer in thalassemia patient CD34(+) HPCs, which we will implement in the first US trial in patients with severe inherited globin disorders. "
05/01/2014 - "This study confirms that increased γG-globin expression associated with Xmn1 polymorphism ameliorates the clinical severity in β-thalassemia as well as SCA in the study population."
02/01/2011 - "This assay may help to characterize β-thalassemia phenotypes and to follow the evolution of the globin chain imbalance(α/β+γ ratio) in response to treatment."

01/01/2012 - "Activation of γ-globin gene expression in adults is known to be therapeutic for sickle cell disease. "
07/01/2014 - "This placebo-controlled phase II study evaluated the pharmacodynamics, efficacy and safety of 2,2-dimethylbutyrate (HQK-1001), a fetal globin gene-inducing short-chain fatty acid derivative, administered orally at 15 mg/kg twice daily for 48 weeks in 76 subjects with sickle cell disease (SCD). "
07/01/2014 - "A double-blind, placebo-controlled phase II study of the efficacy and safety of 2,2-dimethylbutyrate (HQK-1001), an oral fetal globin inducer, in sickle cell disease."
11/01/2013 - "A dose-escalation phase IIa study of 2,2-dimethylbutyrate (HQK-1001), an oral fetal globin inducer, in sickle cell disease."
11/01/2012 - "A phase 1/2 trial of HQK-1001, an oral fetal globin inducer, in sickle cell disease."

04/15/2003 - "Our findings demonstrate the remarkable efficacy of lentivirus-mediated globin gene transfer in treating a fulminant blood disorder and strongly support the efficacy of gene therapy in the severe hemoglobinopathies."
06/01/2015 - "This automated methodology is simple, rapid and cost-effective for the fast determination of human globin chains, which could be an important diagnostic tool in the field of hemoglobinopathies."
01/01/2015 - "High-level fetal (γ) globin expression ameliorates clinical severity of the beta (β) hemoglobinopathies, and safe, orally-bioavailable γ-globin inducing agents would benefit many patients. "
01/01/2015 - "A full understanding of the molecular mechanisms of epigenetic silencing of HbF expression should facilitate the development of more effective treatment of β-globin chain hemoglobinopathies."
05/01/2014 - "Expression of fetal γ-globin in adulthood ameliorates symptoms of β-hemoglobinopathies by compensating for the mutant β-globin. "

01/01/2015 - "The aim of this study was to determine the common α globin gene deletions in cases with microcytic anemia. "
10/01/2014 - "In this study, we determine that this anemia is caused by a paucity of blood cells, and exacerbated by diminished β-like globin gene expression. "
09/01/2015 - "A murine model of moderate SCD without anemia produced by homozygous β-globin deletion replaced by human βs-globin transgene (NY1DD-/-; n = 18), heterozygous transgene replacement (NY1DD+/-; n = 19), and C57Bl/6 control mice (n = 14) was studied. "
06/01/2015 - "Imbalance of α- or β-globin chain production results in impaired red blood cell synthesis, anemia, and more erythroid progenitors in the blood stream. "
06/01/2014 - "PGC-1α and PGC-1β compound null mutant (Pgc-1(c)) animals express less β-like globin mRNAs throughout development; consequently, neonatal Pgc-1(c) mice exhibit growth retardation and profound anemia. "

01/01/2011 - "In order to evaluate the efficacy of a non-invasive prenatal diagnosis (NIPD) test to exclude α-thalassemia major that uses SNPs linked to the normal paternal α-globin allele, we established a novel protocol to reliably detect paternal SNPs within the (--(SEA)) breakpoints and performed evaluation of the diagnostic potential of the protocol in a total of 67 pregnancies, in whom plasma samples were collected prior to invasive obstetrics procedures in southern China. "
08/01/2013 - "This approach detects also the α-globin gene triplication as exemplified by the study of a family where the β-globin gene defect failed to explain the β-thalassemia intermedia phenotype. "
06/01/2012 - "This study provides the experimental evidence for alleviating the clinical symptoms of β-thalassemia major and targeting gene treatment through the regulation of γ-globin."
06/01/2012 - "This study was aimed to detect and identify the promoter CpG island methylation of γ-globin gene in peripheral blood mononuclear cells from patients with β-thalassemia major and healthy adult in Guangxi province, as well as to analyze the difference of promoter methylation rate of each CpG sites between them, and then to screen the promoter CpG island main methylation sites which maybe influence γ-globin expression. "
04/01/2012 - "This study was aimed to analyze the β-globin gene mutations in a patient with β-thalassemia minor. "