|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, IC type parasites were most common among patients with homozygous alpha(+)-thalassaemia (93%), less frequent in heterozygotes (89%), and least frequent in alpha-globin normal children (84%, P(chi2 trend) = 0.03).
|
15109555 |
2004 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
Accurate genotyping of alpha globin determinant is absolutely required as there is a possibility that an interaction of this unusual double mutation with other common alpha0 thalassaemias (--/-alphaT) can give rise to a very severe, probably fatal, alpha thalassaemia.
|
12890155 |
2003 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The beta-globin gene mutations and the alpha-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed.
|
12752111 |
2003 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
It results from a 7.4-kb deletion that removes the delta-globin coding sequences, the delta beta intergenic region as well as the beta-globin gene promoter and causes delta(0)beta(+) thalassemia with hemoglobin A expressed at the 11% to 15% range.
|
11493481 |
2001 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
LHGDN |
Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism.
|
11833853 |
2001 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polymerase chain reaction and DNA sequence analyses demonstrated that the 5' breakpoint of the (deltabeta)(0)-thalassemia deletion was located in the second intron of the delta-globin gene and that the 3' breakpoint lay within a cluster of LI repetitive sequences at 4.7 kb 3' to the beta-globin gene.
|
11860449 |
2001 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene.
|
10022837 |
1999 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These changes are either linked in cis with other mutations or are responsible for thalassemias or for positive regulatory effect in delta-globin gene expression.
|
9143928 |
1997 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints.
|
9099846 |
1997 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report the characterization of an alpha +(-)thalassaemia determinant due to a transition A-->G of the acceptor splice consensus site sequence (IVS1-116) of the first intron of the alpha 2-globin gene.
|
8943885 |
1996 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. beta-Globin genotyping shows here to be compound heterozygous for the codon 39 C-->T beta zero-nonsense mutation and for the T-->C beta(+)-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C-->T/IVS1-6 T-->C). alpha-Globin gene mapping demonstrates the presence of a 3.7-kb alpha (+)-thalassemia deletion on one allele (-alpha 3.7/alpha alpha).
|
8431522 |
1993 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The most prevalent molecular defect was the deletion of 3 alpha-globin structural genes most commonly the (--/-alpha 3.7) genotype (83.6%) and rarely the (--/-alpha 4.2) genotype (1.4%), followed in decreasing order of incidence by the combination of deletion alpha zero-thalassemia and initiation codon mutation of the alpha 2-gene (--/alpha NcoI alpha = 9.8%), deletion alpha zero-thalassemia and pentanucleotide deletion of IVS-I of the alpha 2-globin gene, (--/alpha HphI alpha = 3.3%) deletion alpha zero-thalassemia and initiation codon mutation of the alpha 1-gene (--/alpha alpha NcoI = 1.3%), a homozygous state for initiation codon mutation of the alpha 2-gene (alpha Nco alpha/alpha NcoI alpha = 0.7%).
|
1414154 |
1992 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
It removes the 5' end of the alpha 2-globin gene, causing an alpha (+)-thalassemia defect.
|
1824266 |
1991 |
|
Thalassemia
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Depending on whether it was beta(+)-thalassemia/HbE or beta(0)-thalassemia/HbE, HbF ranged from 22.8 +/- 7.2 to 57 +/- 12.7 per cent; HbE from 30.1 +/- 12.2 to 42.7 +/- 13 per cent; and HbA1 was decreased down to from only 46.8 +/- 13.5 to 0 per cent.
|
2313782 |
1990 |
|
Thalassemia
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Delta zero-thalassemia in cis of beta Knossos-globin gene. Normal structure transient expression of the delta-globin gene.
|
2759233 |
1989 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
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 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Subjects with [--/alpha Th alpha] alpha-globin genotype had more severe thalassemia-like manifestations than those with [--/-alpha] alpha-globin genotype.
|
3189303 |
1988 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
There were 14 heterozygotes and two homozygotes for alpha(+)-thalassemia; the remaining test subject carried a deletion of both alpha-globin genes (alpha(0) -thalassemia of the Southeast Asian type) on one chromosome 16, and triple alpha-globin genes on the other.
|
3265303 |
1988 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion.
|
6716419 |
1984 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Cloning and sequence analysis of the alpha-globin genes from a Sardinian patient with the nondeletion type of hemoglobin-H disease revealed a new type of thalassemia lesion.
|
6490612 |
1984 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
The existence of delta O-thalassemia and the presence of delta-globin genes in this condition recall the molecular findings in most types of beta O-thalassemia.
|
6820119 |
1982 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The interpretation of a second case of deltabeta-thalassaemia is complicated by the fact that the deletion removes the Agamma-gene in addition to the region near the 5'-end of the delta-globin gene.
|
450109 |
1979 |