|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The elevated HbA2 ≥5.3% is a useful marker for initial discrimination between homozygous HbE with and without α0-thalassemia trait.
|
29267983 |
2018 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study is to identify potential CpG site(s) or DNA methylation pattern(s) in the pseudo α-globin 1 gene (HBAP1 gene), the gene which locates in α-thalassemia-1 deletion mutation, to differentiate plasma DNA between pregnant and non-pregnant women.
|
29795670 |
2018 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Homozygous Southeast Asian alpha-thalassemia mutation (--(SEA)/--(SEA)) results in deletion of all alpha-globin genes (alpha(0)-thalassemia).
|
25116001 |
2015 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We performed in silico mining to identify novel microsatellites within 1 Mb flanking the alpha-globin gene cluster, and optimized a single-tube assay combining detection of α(0) -thalassemia deletions with multi-marker linkage analysis.
|
25641621 |
2015 |
|
alpha^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 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mean ± standard deviation (SD) ratio of wild-type α-globin gene allele and α(0)-thalassemia SEA allele among normal individuals, samples with α(0)-thalassemia SEA trait, and Bart's hydrops fetalis were clearly distinguished with levels of 1.78 ± 0.49, 0.85 ± 0.14, and 0.03 ± 0.03, respectively.
|
24330258 |
2014 |
|
alpha^0^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
An elevated HbA(2) level was found in all samples analyzed by the CE method, while 1 was increased when analyzed by HPLC, which was a compound heterozygous of Hb Hope and α-thalassemia-1 SEA-type deletion.
|
21685027 |
2011 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Quantitative HbA2 test and PCR (SEA type) were performed as gold standard to confirm the diagnosis of beta-thalassemia trait and alpha-thalassemia-1 trait, respectively.
|
20068326 |
2010 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the majority of cases, Hb H disease results from double heterozygosity for alpha(0)-thalassemia due to deletions that remove both linked alpha-globin genes on chromosome 16, and deletional alpha(+)-thalassemia from single alpha-globin gene deletions (--/-alpha).
|
20008179 |
2009 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In another method, two specific fragments located 5' to the zeta(2) gene (XbaI fragment) and the alpha(2)-globin gene (RsaI fragment) together with the gap-PCR fragment were multiply co-amplified to determine the presence or absence of normal and alpha(0)-thalassemia alleles.
|
19546525 |
2009 |
|
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 |
|
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 |
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 |
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 |
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 |
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 |
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 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 |
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 |
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 |
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 |