|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
DNA-based diagnosis was offered to 1906 pregnancies at risk for thalassemia using a combination method of multiplex-PCR and reverse dot blot analysis to detect seven α-globin and 47 β-globin mutations.
|
31659625 |
2020 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
At least six α-globin gene haplotypes were associated with the -α<sup>3.7I</sup> α<sup>+</sup>-thalassemia.
|
31199903 |
2019 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
Alpha (α) Thal is caused by a reduced or absent alpha globin segment.
|
31141729 |
2019 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
|
31044540 |
2019 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
Thalassemia screening instructions in Iran categorizes couples with mean corpuscular volume (MCV)=75 to 80, mean corpuscular hemoglobin (MCH)=26 to 27, hemoglobin A2 (HbA2)<3.5, and hemoglobin fetal (HbF)<3 indices as low-risk couples, and therefore further genetic testing is not obligatory.
|
30676434 |
2019 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia's diagnosis and management.
|
31060505 |
2019 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Hematological parameters were compared with those of patients with compound heterozygote for other α-globin variants and α<sup>0</sup>-thalassemia previously documented.
|
28945175 |
2018 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
The increase in HbA2 is the most important parameter for the identification of thalassemia carriers.
|
26794457 |
2016 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here, we designed a technique strategy and applied it to identify two CNVs involving the α-globin gene cluster causing thalassemia in two Chinese families.
|
27000657 |
2016 |
|
Thalassemia
|
0.100 |
AlteredExpression
|
group |
BEFREE |
To undertake β-genotyping in couples having normal/borderline HbA2 levels in one partner to offer the possibility of prenatal diagnosis of thalassaemia.
|
26456238 |
2015 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
However, α-globin genotyping should be carried out in samples with positive IC strip as positive reactivity was also observed in homozygous α(+)-thalassemia carriers who have 2 trans α-globin gene deletions.
|
25450870 |
2015 |
|
Thalassemia
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In addition the activated δ-globin gene gives rise to a robust increase of the hemoglobin level in β-thalassemic mice, effectively improving the thalassemia phenotype.
|
23872310 |
2014 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
DNA sequencing identified a CTT (Leu) to TTT (Phe) mutation at codon 91 corresponding to the Hb Grey Lynn (Vientiane) [α91(FG3)Leu>Phe (α1) on α1-globin gene and a C deletion between codons 36 and 37 on α2-globin gene causing α(+)-thalassemia.
|
24627726 |
2014 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our study showed that in most of the alpha thalassemia carriers just one copy of alpha globin gene was absent and they are not at risk of having children with Hb H disease or hydrops fetalis; however, up to 2.2% of neonates were carriers for ααα(anti3.7) triplication and they will be at risk for having a child with thalassemia intermediate if they marry a person which is a carrier of beta thalassemia.
|
24074530 |
2014 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Complexity of the alpha-globin genotypes identified with thalassemia screening in Sardinia.
|
23896219 |
2014 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report the presence of two different dglobin gene mutations causing d?-thalassemia in association with homozygous (-a3.7/-a3.7) genotype for the first time in an Omani child with a low hemoglobin A2 (HbA2) of 0.8 %.
|
23797957 |
2013 |
|
Thalassemia
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The BioRad Variant II Hb analyser is a common instrument used to quantify HbA2 levels in thalassaemia screening.
|
23222244 |
2013 |
|
Thalassemia
|
0.100 |
AlteredExpression
|
group |
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 |
|
Thalassemia
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Herein, we used the same β(654)-thalassaemia mouse model to develop a therapy involving direct delivery of siRNA and antisense RNA plasmids via intravenous injection to simultaneously knock down α-globin transcript levels and restore correct β-globin splicing.
|
21369857 |
2011 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
The α-globin/non α-globin mRNA ratio was demonstrated to be a good indicator for disease severity among different thalassaemia disorders.
|
21732929 |
2011 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
The aim of this review is to study the frequency of common and the occurrence of rare and novel mutations of the delta-globin gene and of Hb Lepore defects that might interfere with thalassemia diagnostics and to report the rationale of HbA2 estimation in the presence of delta- or alpha-gene mutations.
|
20678137 |
2011 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
DNA analysis of the α2 globin gene identified a novel mutation (namely Hb Nakhon Ratchasima), GCC (Ala)→GTC (Val) at codon 63 in trans to the α(+)-thalassemia (3.7-kb deletion).
|
21447006 |
2011 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This report emphasizes that normal HbA₂ expression in a β-goblin carrier is due to mutation in the δ-globin gene and may cause misdiagnosis of thalassemia.
|
21194254 |
2011 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Nondeletional hemoglobin (Hb) H disease is caused by a deletion of both alpha-globin genes on one chromosome 16 and of an alpha(+)-thalassemia point mutation on the other chromosome 16.
|
20516677 |
2010 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
Excess free alpha-globin is cytotoxic and contributes to the pathophysiology of b-thalassemia.
|
20815047 |
2010 |