|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genotypes of 638 pregnant women were: 409 samples (64.11%) being normal subjects (αα/αα) and 229 samples (35.89%) with α-thalassaemias. these 229 samples could be classified into deletional HbH disease (--SEA/-α3.7) for 18 samples (2.82%); heterozygous α0-thalassaemia --SEA type (--SEA/αα)) for 78 (12.23%); heterozygous α+-thalassaemia - α3.7 type (-α3.7/αα) for 99 (15.52%); homozygous α+-thalassaemia - α3.7 type (-α3.7/- α3.7) for five (0.78%); heterozygous α+-thalassaemia - α4.2 type (-α4.2/αα) for two (0.31%); and heterozygous HbCS (αCSα/αα) for 27 (4.23%) cases.
|
27241645 |
2016 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hb Bart's was detected in all cases, with several α(0)-thalassaemia (SEA type) related disorders.
|
24907301 |
2014 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Plasma DNA was extracted from 10 mL of maternal blood from couples who both were alpha-thalassemia-1 carriers (SEA deletion).
|
22031039 |
2012 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Globin gene analyses demonstrated that she carried the Hb Lepore-Hollandia mutation in trans to the Hb E and a compound heterozygosity for α(0)-thalassemia (SEA deletion) and α(+)-thalassemia (3.7 kb deletion), leading to the Hb Lepore EF Bart's disease.
|
21302111 |
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 |
The new biosensor could clearly identify α-thalassemia 1 (SEA deletion), both carrier and disease states, from the normal genotype.
|
20578968 |
2010 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common type of alpha0-thalassemia and alpha++-thalassemia mutations in our study were the SEA type deletion and the alpha3.7 deletion, respectively; the most common beta-thalassemia mutation was the IVS-2 nt 654 C-->T mutation; and the most common Hb variant was the HbE.
|
18710411 |
2010 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Family study identified that her father was a double heterozygote for Hb Q-Thailand and Hb E, whereas her mother was a heterozygote for SEA-HPFH with alpha(0)-thalassemia.
|
20333523 |
2010 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the first method, the SEA alpha(0)-thalassemia deletion of parents and fetuses were determined by gap-PCR routinely run in our laboratory.
|
19546525 |
2009 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The final outcome was based on the fetal DNA analysis using PCR technique for SEA type alpha-thalassemia-1.
|
18932192 |
2008 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the detection rate for alpha(+)-thalassaemia was high, a strategy of selective screening using MCH <25 pg and ethnic group (SEA, Middle East or Eastern MED) would have identified all individuals heterozygous for alpha(0)-thalassaemia.
|
17626702 |
2007 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In order to provide a noninvasive prenatal diagnosis of alpha(0)-Thalassemia (Southeast Asian [SEA] deletion), we have developed a real-time quantitative semi-nested polymerase chain reaction (PCR) method for identifying the fetal alpha(0)-Thalassemia in maternal plasma.
|
17108198 |
2006 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
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 |
Co-inheritance of alpha-thalassemia 1 (SEA type) with each of the common beta-thalassemia genes in Southeast Asian and with hemoglobin E could be identified in a single PCR reaction.
|
11522274 |
2001 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A couple were identified as alpha-thalassemia-1 carriers (father: alpha-thal-1 of Filipino type, mother: alpha-thal-1 of SEA type).
|
11715843 |
2001 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of zeta chains is highly specific for alpha thalassaemia 1 incorporating the (--/SEA) deletion.
|
7490322 |
1995 |
|
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 |
Biomarker
|
disease |
BEFREE |
We sequenced part of the X boxes of alpha-thalassemia-1 of Southeast Asia type (- -SEA) with -alpha 4.2, -alpha 3.7, -alpha G-Taichung, and alpha CS alpha.
|
7948308 |
1994 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
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 |
The --SEA deletion was the major type of alpha-thalassemia-1, while three smaller deletions (-2.7, -3.7 and -4.2 kb) and two nondeletional alpha-thalassaemia determinants (Hbs Constant Spring and Quong Sze) were the alpha-thalassaemia-2 types.
|
7515267 |
1994 |
|
alpha^0^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gene mapping was used to demonstrate that the mother is heterozygous for the South-east Asia alpha-thalassaemia-1 deletion (zeta zeta zeta alpha alpha/zeta zeta--SEA), while the father carries an alpha-thalassaemia-1 deletion of more than 100 kilobases (zeta zeta alpha alpha/----).
|
1581218 |
1992 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Eleven subjects (5.07%) were found to have the South East Asian alpha-thalassemia-1 haplotype (zeta zeta--SEA/zeta zeta alpha alpha) with increased Hb Bart's levels ranging from 2.2 to 9%.
|
2508397 |
1989 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Newborns who were carriers of alpha-thalassemia-1 due to the (--SEA/) deletion had very high levels of zeta-globin chains (greater than 1.5%).
|
2475189 |
1989 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These are: alpha+-thalassemia (-alpha 3.7/) and alpha 0-thalassemia (--SEA/).
|
2762043 |
1989 |
|
alpha^0^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have found four types of defects in the alpha-thalassemia-2 genetic determinant: -alpha 3.7 type I; -alpha 4.2; alpha CS alpha; and alpha alpha T. All HbH subjects carried the --SEA genotype in the alpha-thalassemia-1 determinant.
|
2828223 |
1988 |