|
Delta-Beta Thalassemia
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population.
|
18932066 |
2008 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A considerable number of deletions of variable size and position that involve the beta-globin gene complex on chromosome 11 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia.
|
7510147 |
1994 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our earlier study of the beta-globin gene on this delta beta-thalassemia chromosome showed a promoter mutation in the TATA box.
|
7515719 |
1994 |
|
Delta-Beta Thalassemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The term delta beta-thalassemia with normal HbF has been recently proposed to define heterogenous delta and beta globin gene molecular defects involving the same chromosome in cis.
|
7504402 |
1994 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The 32.6 kb Indian delta beta-thalassaemia deletion ends in a 3.4 kb L1 element downstream of the beta-globin gene.
|
1419824 |
1992 |
|
Delta-Beta Thalassemia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Detailed haematological analysis demonstrated that: the Corfu delta beta thalassaemia mutation does not completely abolish the expression of the beta-globin gene; the HbA2 levels are slightly lower (P less than 0.01) and the HbF levels slightly higher (P less than 0.01) in Corfu delta beta thalassaemia heterozygotes compared to beta-thalassaemia heterozygotes with the normal HbA2-type 2 phenotype who do not have the Corfu delta beta chromosome.
|
1720325 |
1991 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.
|
2798417 |
1989 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Southern blot analysis using probes 3' to the beta-globin gene showed that the deletion extends in the 3' direction further than any other deletions associated with delta beta-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) heretofore reported.
|
3179447 |
1988 |
|
Delta-Beta Thalassemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The inactive beta globin gene on a gamma delta beta thalassemia chromosome has a normal structure and functions normally in vitro.
|
3345345 |
1988 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study we characterize the mutant beta-globin gene from this delta beta-thalassemia chromosome.
|
2822174 |
1987 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes.
|
2875756 |
1986 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have cloned and sequenced the DNA from two regions of the defective beta-globin gene cluster from a patient with Indian A gamma delta beta thalassaemia, and confirmed the complex and unusual pattern of rearrangement involving two separate deletions (0.8 kb and 7.5 kb) the inversion of the 15.5 kb segment separating them, as previously proposed from gene mapping studies [1].
|
4000967 |
1985 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.
|
2997283 |
1985 |
|
Delta-Beta Thalassemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
By DNA analysis the specific delta beta-thalassaemia defect on the gamma delta beta globin gene region has been established.
|
6208362 |
1984 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of delta beta thalassaemia in an Indian family is shown here to be due to a previously undescribed deletion within the beta globin gene complex.
|
6477837 |
1984 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the 3' end points of the deletions in the two forms of delta beta-thalassemia were located approximately equal to 5 and 10 kilobases to the 3' side of the beta-globin gene.
|
6196781 |
1983 |
|
Delta-Beta Thalassemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hence, this gamma delta beta-thalassemia deletion eliminates over 105 kb of DNA and is the first report of a deletion of the entire beta-globin gene cluster.
|
6839025 |
1983 |