Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the β-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course.
|
28385923 |
2017 |
Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The authors describe a Chinese child of β-thalassemia heterozygote with the mutation IVS2-654 (C→T) (HBB:c.316-197C→T) presenting with severe thalassemia intermedia.
|
26086873 |
2015 |
Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice.
|
23975182 |
2014 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Most arise from heterozygous β-globin gene mutations in exons 3 or 2 and present in adulthood as thalassemia intermedia.
|
23776097 |
2013 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To characterize different common mechanisms involving in pathogenesis of moderate to severe β-thalassemia intermedia, we have studied four factors in 38 Iranian patients with thalassemia intermedia: β-globin gene mutation, deletion in α-globin genes, presence of XmnI polymprphism and RFLP haplotype at β-globin gene cluster.
|
21120615 |
2011 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Codon 104(-G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited beta0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient.
|
17768122 |
2007 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report here a new frameshift mutation in exon 3 of the beta-globin gene, a single nucleotide deletion (-C) in between codons 140/141 (GCC/CTG-->GCC/TG), found in an 8-year-old Argentinean girl with clinical picture of thalassemia intermedia.
|
16628732 |
2006 |
Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
CTD_human |
mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models.
|
16755567 |
2006 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.
|
15566365 |
2004 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia.
|
1571556 |
1992 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This report describes a patient with thalassemia intermedia-like phenotype born to normal parents in whom globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T to A substitution at codon 60 of the beta-globin gene arising as a de novo mutation.
|
1985702 |
1991 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
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 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study we have carried out alpha- and beta-globin gene analysis and defined the beta-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent.
|
2473806 |
1989 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Association of thalassaemia intermedia with a beta-globin gene haplotype.
|
2436649 |
1987 |
Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
CTD_human |
"The same ""TATA"" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation."
|
3021607 |
1986 |
Thalassemia Intermedia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Restriction endonuclease analysis has been performed on the alpha and beta globin gene clusters of 57 Cypriots homozygous for beta thalassaemia, 30 with the transfusion dependent form of the condition (thalassaemia major) and 27 who are less severely affected (thalassaemia intermedia).
|
6297530 |
1983 |
Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
|
6280057 |
1982 |
Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
CTD_human |
A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.
|
6270663 |
1981 |
Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The 3 subjects with thalassemia intermedia are synthesizing the beta-globin chain in a proportion higher than that expected from the level of Hb A in peripheral blood.
|
6156119 |
1980 |
Thalassemia Intermedia
|
0.400 |
Biomarker
|
disease |
CTD_human |
beta 0 thalassemia, a nonsense mutation in man.
|
88735 |
1979 |