|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
With differences in the amounts of HbA2 and HbF between the groups, an arbitrary score (7.3 HbA2+HbF) was developed where score above 60 indicated HbE-β0-thalassemia.
|
29668441 |
2018 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The α-globin gene triplicated haplotype (αααanti3.7) was observed in 1 case of Hb E-β0-thalassemia.
|
26303193 |
2016 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA analysis of δ-globin gene identified the Hb A2-Melbourne [δ43(CD2)Glu→Lys] in combination with α(+)-thalassemia, α(0)-thalassemia and β(0)-thalassemia in the first three cases, respectively.
|
25218786 |
2015 |
|
beta^0^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
HbA2 levels in β-thalassaemia carriers with the Filipino β0-deletion: are the levels higher than what is found with non-deletional forms of β0-thalassaemia?
|
23222244 |
2013 |
|
beta^0^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The highest levels of HbA(2) and Hb Hope were observed in samples with Hb Hope/β(0)-thalassemia.
|
22962223 |
2012 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
To identify genetic modifiers influencing disease severity, we conducted a two-stage genome scan in groups of 207 mild and 305 severe unrelated patients from Thailand with Hb E/beta0 thalassemia and normal alpha-globin genes.
|
20353593 |
2010 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Coinheritance of alpha-thalassemia with beta 0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of alpha-globin gene triplication in severe thalassemia.
|
18026953 |
2008 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
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 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
We evaluated the contribution of 67 single nucleotide polymorphisms (SNPs) within the beta-globin gene cluster to disease severity in groups of 207 mild- and 305 severe unrelated patients from Thailand with Hemoglobin E (HbE)/beta(0)-thalassemia and normal alpha-globin genes.
|
17894837 |
2007 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient originating from Ghana who had combined heterozygous alpha (4.2)thalassemia, alpha alpha alpha anti3.7 triplication, the common delta globin variant HbA2' and a new 65 bp duplication/insertion in exon II of the b globin gene causing beta (0)-thalassemia.
|
17339197 |
2007 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mother also carried a previously unreported missense mutation of the delta-globin gene, in cis with the beta(0)-thalassemia mutation, which gave rise to the minor Hb variant originally misidentified as Hb Lepore.
|
14587045 |
2003 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Triplication of alpha-globin gene and heterozygosity for beta0-thalassemia accounted for 15% of beta-thalassemia intermedia patients at our locality and was associated with a mild clinical phenotype.
|
11445869 |
2001 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
As expected, alpha/beta-globin mRNA ratios were influenced by the concomitant presence of an alpha-globin gene pathology and the beta0 thalassemia and not by the presence of the beta-globin variant which apparently is clinically silent.
|
10398311 |
1999 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alpha/beta mRNA ratio was higher than in cases combining alpha-globin triplication and beta(0)-thalassaemia or in cases of beta(0)-thalassaemia heterozygous state alone (18, 14.7 and 10.1 respectively).
|
10554822 |
1999 |
|
beta^0^ Thalassemia
|
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 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Severe thalassaemia intermedia caused by interaction of homozygosity for alpha-globin gene triplication with heterozygosity for beta zero-thalassaemia.
|
8199028 |
1994 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Filipino beta zero thalassaemia extends for approximately 45 kb beginning approximately 1.5 kb 3' to the delta globin gene.
|
7682618 |
1993 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
From these results, we may conclude that the inheritance of a mild beta-thalassemia allele such as the beta+ IVS-I nt 6 mutation, in the homozygous or heterozygous state, the coinheritance with homozygous beta zero-thalassemia of the -158 (C----T) G gamma gene promoter mutation and the presence of heterozygous beta-thalassemia/triple alpha-globin gene arrangement are the most common reasons accounting for the development of attenuated forms of beta-thalassemia in Puglia.
|
1725229 |
1991 |
|
beta^0^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Compared to SS disease, both thalassaemia syndromes had higher HbA2 levels and red cell counts and lower mean cell haemoglobin content (MCHC), mean cell volume (MCV) and MCH, and S beta zero thalassaemia had higher HbF and reticulocyte counts.
|
2012764 |
1991 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel mutation in the delta globin gene of a compound heterozygote for delta o thalassemia and a deletion type G gamma + (A gamma delta beta) zero thalassemia.
|
2767680 |
1989 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In all these subjects hypochromia and microcytosis were more marked than in beta zero-thalassemia heterozygotes with a full complement of four alpha-globin genes.All but one had moderate anemia.
|
3189303 |
1988 |
|
beta^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The effects of alpha thalassaemia on sickle cell-beta zero thalassaemia have been studied by comparing haematological and clinical features in four subjects homozygous for alpha thalassaemia 2 (2-gene group), 27 heterozygotes (3-gene group), and 55 with a normal alpha globin gene complement (4-gene group).
|
3219294 |
1988 |
|
beta^0^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We report the characterization of a beta zero-thalassemia in an American Black with unusually high HbA2 and HbF levels.
|
2456798 |
1988 |
|
beta^0^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
No differences between S beta(0) thalassaemia and S beta(+) thalassaemia were apparent in HbF levels (which resembled those in SS disease) or in HbA2 levels (which exceeded those in SS disease by 1 year of age).
|
4005180 |
1985 |
|
beta^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alpha zero- and beta zero-thalassemia in a Thai family: unusually mild homozygous beta zero-thalassemia without alpha-globin gene deletion.
|
2580774 |
1985 |