|
Beta thalassemia trait
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Missed Diagnosis of β-Thalassemia Trait in Premarital Screening Due to Accompanying HbA2-Yialousa (HBD: c.82G>T).
|
31688628 |
2019 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
There is no external quality assessment (EQA) program for hemoglobin analysis that uses lyophilized hemoglobin control materials with HbA2/E in levels as high as those found in people with the β-thalassemia trait, HbE trait, β-thalassemia/HbE disease or homozygous HbE; these are all found frequently in the southeast Asian population.
|
29176016 |
2018 |
|
Beta thalassemia trait
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this case study, we report a β-thalassaemia trait (IVS 1-5G→C) (HBB:c.92 + 5G→C) with HbA<sub>2</sub> of 1% showing the presence of δ-globin gene variant HbA<sub>2</sub> St. George CD 81 (C→T) (HBD:c.244C→T).
|
27461962 |
2016 |
|
Beta thalassemia trait
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mean HbA2 in iron-replete βTT was 5.4 ± 0.8 (range 3.1-7.9) and in iron-deficient βTT was 5.4 ± 0.9 (range 3.3-7.6).
|
24754744 |
2015 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Both coinheritance of thalassemic δ-globin mutation and coexistence of iron deficiency anemia (IDA) tend to decrease HbA2 (α2 δ2 ) level and thereby poses a diagnostic conundrum in β-thalassemia trait.
|
25043855 |
2015 |
|
Beta thalassemia trait
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that it could be valuable to study co-existing α-globin mutations in subjects with β-thalassaemia trait in a prenatal screening programme, especially in populations with a high prevalence of haemoglobinopathies.
|
25118159 |
2014 |
|
Beta thalassemia trait
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the presence of thalassemic parameters in the CBC, the accurate and precise quantification of hemoglobin HbA2 is essential for the diagnosis of β-thalassemia trait.
|
23039078 |
2013 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
β-thalassaemia trait with coinheritance of α-thalassaemia (-α) is associated with significantly higher HbA2 level.
|
23222244 |
2013 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
HbA(2) level >3.5% was diagnostic for beta-thalassemia trait.
|
22889518 |
2012 |
|
Beta thalassemia trait
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The elevation of HbA(2) in patients with heterozygous Hb Hope and with Hb Hope/α-thalassemia-1 SEA type deletion measured by CE leads to incorrect β-thalassemia trait diagnosis.
|
22962223 |
2012 |
|
Beta thalassemia trait
|
0.100 |
Biomarker
|
disease |
BEFREE |
The HbA(2) determination showed high sensitivity and specificity for the detection of beta-thalassemia trait patients.
|
21985133 |
2012 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Premarital screening studies in families in which only one of the parents has typical aspects of β-thalassemia trait and the other has a normal HbA2 level associated with abnormal red cell indices becomes a necessity to avoid missing thalassemia carriers.
|
23089702 |
2012 |
|
Beta thalassemia trait
|
0.100 |
Biomarker
|
disease |
BEFREE |
The index patient showed a moderate microcytic hypochromic anemia with normal ZPP and elevated HbA(2) , indicative for β-thalassemia trait.
|
22324317 |
2012 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Beta-thalassemia trait also significantly decreased the expression of HbH, Hb Constant Spring when present, and HbA(2) , with levels as low as 3.6% on high-performance liquid chromatography (HPLC).
|
22433173 |
2012 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The father has a classical β thalassemia trait and the mother showed typical reduced red cell indices with a high RBC count but the HbA2 level was normal (2.4%).
|
22659060 |
2012 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This study aimed to evaluate the value of HbA2 level in the screening of pregnant women with β-thalassemia trait.
|
21403433 |
2011 |
|
Beta thalassemia trait
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inducing expression of endogenous fetal globin (gamma-globin) gene expression to 60-70% of alpha globin synthesis produces beta-thalassemia trait globin synthetic ratios and can reduce anemia to a mild level.
|
20712788 |
2010 |
|
Beta thalassemia trait
|
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 |
|
Beta thalassemia trait
|
0.100 |
Biomarker
|
disease |
BEFREE |
HbA(2) results in patients with and without beta-thalassemia trait were lower with the Capillarys 2 system.
|
19233839 |
2009 |
|
Beta thalassemia trait
|
0.100 |
Biomarker
|
disease |
BEFREE |
We found that a significant number of pregnant women with mild HbA2 elevation had no evidence of betaTT, compared with the nonpregnant group.
|
19095564 |
2009 |
|
Beta thalassemia trait
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In thalassemia major or intermedia, reduction in the number of alpha globin genes can ameliorate the disease phenotype; conversely, excess alpha globin genes can convert beta thalassemia trait to a clinical picture of thalassemia intermedia.
|
18991646 |
2008 |
|
Beta thalassemia trait
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The study included 170 BTT cases (hemoglobin [Hb]A(2) >4.0% [0.04]) and 30 non-BTT cases (HbA(2), 2.3%-3.5% [0.02-0.04]).
|
17875509 |
2007 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Classic alkaline electrophoresis and the modern capillary electrophoresis CE showed these two tetramers and the reduction of the elevated HbA2 level of the beta-Thalassemia trait by at least 20% due to HbA2 Meerut.
|
17194662 |
2006 |
|
Beta thalassemia trait
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
However, since high HbA2 levels are diagnostic for beta-thalassemia trait and a lowered level for an alpha- or delta-mutation, co-inheritance of delta- and beta-gene defects may lead to misinterpretation of diagnostic results.
|
16434382 |
2006 |
|
Beta thalassemia trait
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
delta-Thalassemia reduces the expected HbA2 percentage, altering the normal as well as the beta-thalassemia trait phenotype.
|
9101295 |
1997 |