|
Thalassemia Intermedia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype.
|
30489691 |
2019 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe three cases with hemoglobin (Hb) Adana, a nondeletional alpha chain mutation, compounded with an alpha globin gene deletion resulting in thalassemia intermedia.
|
29749692 |
2018 |
|
Thalassemia Intermedia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Unexpected severe phenotype in the family members may result from coexistence of extra α-globin genes, which is an important factor in the causation of thalassemia intermedia and major in heterozygous β-thalassemia.
|
26343893 |
2015 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two common underlying mechanisms include co-inheritance of alpha globin gene deletions in homozygous thalassemia intermedia and presence of XmnI polymorphism.
|
19941736 |
2009 |
|
Thalassemia Intermedia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The presence of alpha globin cluster duplication should be considered in patients heterozygote for beta-thalassemia with thalassemia intermedia phenotype and in the carriers of suspected silent beta thalassemia.
|
19794088 |
2009 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report the clinical and hematological data and the molecular analysis and discuss the occurrence of alpha-globin genes duplication defects in cases of beta-thalassemia heterozygotes with thalassemia intermedia phenotypes.
|
18249014 |
2008 |
|
Thalassemia Intermedia
|
0.100 |
Biomarker
|
disease |
BEFREE |
In thalassemia major or intermedia, reduction in the number of alpha globin genes can ameliorate the disease phenotype; conversely, excess alpha globin genes can convert beta thalassemia trait to a clinical picture of thalassemia intermedia.
|
18991646 |
2008 |
|
Thalassemia Intermedia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia.
|
17222202 |
2007 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, alpha globin gene triplication is important genetic determinant underlying thalassemia intermedia in North Indians.
|
16753851 |
2006 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Based on the molecular analysis of beta-thalassemia intermedia, beta-thalassemia homozygotes or compound heterozygotes combined with alpha-thalassemia, as well as the conjunctive abnormalities of beta-thalassemia heterozygote with triplicated haplotype of alpha-globin genes, were the most common cause of thalassemia intermedia in China.
|
11694246 |
2001 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In some cases, impairment of two alpha-globin genes by point mutations led to a thalassemia-intermedia-like picture which could be misdiagnosed as beta-thalassemia.
|
11074535 |
2000 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We examined DNA from 28 patients with thalassaemia intermedia resident in London and 28 matched patients with thalassaemia major, for 3 types of genetic modifying factors, namely; mild beta-thalassaemia mutations, the upstream XmnI G-gamma globin gene polymorphism, and alpha-globin gene deletions.
|
9020368 |
1997 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The three patients homozygous for the alpha-globin gene locus (anti 3.7 kb arrangement) had beta(0)-thalassaemia mutations and a diagnosis of thalassaemia intermedia, preserving haemoglobin levels around 7-8 g/dl.
|
8943886 |
1996 |
|
Thalassemia Intermedia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three of 15 patients with thalassemia intermedia had the triple alpha-globin gene arrangement in the heterozygous (2) or homozygous state (1) in association with heterozygous beta zero-thalassemia.
|
1725229 |
1991 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These patients showed a more severe thalassaemia intermedia like clinical phenotype as compared to those with the same beta-globin genotype and a normal alpha-globin gene arrangement.
|
2346726 |
1990 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comparison of the beta-globin gene cluster haplotypes, alpha globin genotypes and beta gene mutations of the thalassaemia major group with the thalassaemia intermedia group suggests that the co-inheritance of a high Hb F determinant associated with the - + - + + 5' beta haplotype and the inheritance of a mild beta-thalassaemia mutation are the major ameliorating factors of disease severity in Asian Indians.
|
2903765 |
1988 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In two patients with beta(0) thalassaemia intermedia the mild phenotype may be explained in one by the presence of the - + - + + 5' beta-globin gene cluster haplotype which contains the Xmn I site -158 nt to the G gamma-globin gene or in the other by the number of alpha-globin genes present.
|
3207629 |
1988 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this paper we report that the combination of a triplicated alpha globin locus with heterozygous beta-thalassaemia produces a clinical phenotype of thalassaemia intermedia in five Italian subjects from four unrelated families, while in two other cases the phenotype was thalassaemia minor.
|
3593644 |
1987 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia.
|
6716419 |
1984 |
|
Thalassemia Intermedia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, the combination of the homozygous state for the triple alpha-globin gene loci and the heterozygous state for beta-thalassemia produced a clinical picture of thalassemia intermedia with a very mild clinical course, minor increase of fetal hemoglobin (HbF) levels, and a pronounced imbalance of globin chain synthesis.
|
6313095 |
1983 |