|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In alpha-thalassemia-1 and the nondeletion type of hemoglobin-H disease the two alpha-globin genes are at two loci on one chromosome and none reside on the other chromosome.
|
447845 |
1979 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
In 10 families with clinically well-defined alpha-thalassemia-1 (alpha-thal-1), hydribization of alpha-globin cDNA was reduced to the same level as that found in Asians with alpha-thal-1, where two of the four normally present alpha-globin genes are deleted.
|
507051 |
1979 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular hybridization studies with synthetic radioactive DNA's complementary to alpha-globin mRNA sequences show that in addition to the usual deletion defect, a nondeletion defect produces the phenotype of alpha-thalassemia-1.
|
909565 |
1977 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
We used the polymerase chain reaction (PCR) to amplify the breakpoint area of alpha-thalassemia-1 of Southeast Asia type and several parts of the alpha-globin gene cluster to make a differential diagnosis between alpha-thalassemia-1 and Hb Bart's hydrops fetalis.
|
1421177 |
1992 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel alpha-thalassaemia-1 deletion that removes the entire zeta-alpha globin gene cluster.
|
1581218 |
1992 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One deletional alpha-thalassaemia-1 (type MED-II) was found in 10 subjects: this deletion is in excess of 26.5 kb and includes all zeta- and alpha-globin genes.
|
1581238 |
1992 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 664 DNA samples were screened for alpha-thalassemia 2 and alpha-thalassemia 1 caused respectively by either deletion of one or both of the duplicated alpha-globin genes. alpha-Thalassemia 2 was detected in high frequencies in coastal and lowland regions where malaria has been holo- to hyperendemic but in low frequencies in non-malarious highland regions.
|
2878871 |
1986 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this population sample we did not find either heterozygous carriers of alpha 0 thalassemia (deletion of both alpha genes in "cis") or individuals showing hemolytic anemia due to inactivation of three alpha-globin genes (Hb H disease).
|
3169739 |
1988 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deletions of both alpha-globin genes on one chromosome (alpha-thalassemia-1) of the Southeast Asian type were observed in 5 cases, and 3 alpha-globin gene triplications were identified.
|
3169795 |
1988 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
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 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hemolysates from adults with the alpha-thalassemia-1 haplotype due to the greater than 17.5-kb deletion of both alpha-globin genes from the same chromosome were found to contain embryonic zeta (zeta)-globin chains (alpha-globin-like chains), as determined by a specific and sensitive radioimmunoassay and an electrophoretic technique. zeta-Globin chains were not present in hemolysates from adults with deletion of a single alpha-globin gene from one or both chromosomes.
|
3941693 |
1986 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The deletions in the zeta-alpha globin gene cluster in two infants with the hemoglobin Bart's hydrops fetalis syndrome (homozygous alpha thalassemia 1) have been mapped by restriction endonuclease analysis using a zeta-specific probe.
|
6158051 |
1980 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.
|
6255436 |
1980 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The 570 bp product was specific to the alpha-thalassemia-1 determinant and the 194 bp fragment was amplified from either the alpha-thalassemia-2 (-alpha) or normal alpha-globin (alpha alpha) determinants.
|
7554366 |
1995 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel deletion of the entire alpha globin locus causing alpha-thalassemia-1 in a northern European family.
|
7942631 |
1994 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The study depended on (a) most of the Hb H disease in Taiwan having an alpha-thalassemia-1 of the Southeast Asia type (--SEA) in one allele and (b) the differences of X box of alpha-globin gene cluster in the other allele.
|
8110877 |
1994 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We utilized the PCR method to amplify the alpha-thalassemia-1 breakpoint area of the Southeast Asia type and several regions of the alpha-globin gene cluster to diagnose rightward deletion (-alpha 3.7), leftward deletion (-alpha 4.2) or nondeletion forms of the Hb H disease.
|
8140856 |
1993 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have assessed the allelic stability of VNTRs during recent human evolution, focusing on the relationship between an alpha-thalassaemia-1 deletion that is common among South-East Asian populations (--SEA/) and a VNTR located immediately down-stream of the alpha-globin gene cluster (3'alpha HVR).
|
8188311 |
1994 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common genotypic lesion found in alpha-thalassemia-1 cases in Taiwan is deletion of a large segment of the alpha-globin gene cluster, termed the Southeast Asian-type deletion (-SEA/; further referred to as SEA-type deletion).
|
11186886 |
2000 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This multiplex approach was more sensitive than the HbH prep for detecting all alpha-thalassemia genotypes, particularly alpha+-thalassemia; was particularly valuable for identifying carriers of alpha0-thalassemia at risk for offspring with hemoglobin Bart hydropsfetalis, regardless of other diagnosed hemoglobinopathies; and is an ideal adjunct to standard clinical screening protocols for detecting alpha-globin deletions.
|
12109851 |
2002 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alpha0 thalassaemia as a result of a novel 11.1 kb deletion eliminating both of the duplicated alpha globin genes.
|
14747442 |
2004 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Extensive molecular analyses of the alpha globin genes and their regulatory sequence (HS-40) revealed that both patients are compound heterozygotes for alpha0 thalassemia (--(SEA)) and a novel point mutation, a thymidine insertion after codon 131 of the alpha1 gene.
|
14978697 |
2004 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among the former group, the most prevalent molecular defect was found to be the interaction of alpha-thalassemia 1 (SEA type) with the Hb Constant Spring (Hb CS; 35 of 52 patients), followed by the deletion of three alpha-globin genes with the SEA type alpha-thalassemia 1 and the 3.7- or 4.2-kb deletion of alpha-thalassemia 2 (14 of 52 patients) and the interaction of the SEA alpha-thalassemia 1 with the Hb Paksé which was found in the remaining 3 patients.
|
15034236 |
2004 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, we identified Hb Quong Sze (Hb QS), a highly unstable globin gene mutation affecting codon 125 (CTG-->CCG) of alpha(2) globin gene in trans with the commonest alpha(0) thalassemia (-(SEA)) in the patient.
|
17503046 |
2007 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
With this method, the alpha-thalassemia-1 SEA allele can be easily distinguished from wild type alpha-globin gene allele.
|
18284625 |
2008 |