|
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 |
Biomarker
|
group |
BEFREE |
Alpha (α) Thal is caused by a reduced or absent alpha globin segment.
|
31141729 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Complexity of the alpha-globin genotypes identified with thalassemia screening in Sardinia.
|
23896219 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Excess free alpha-globin is cytotoxic and contributes to the pathophysiology of b-thalassemia.
|
20815047 |
2010 |
|
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 |
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 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
The heritable haemoglobinopathy alpha(+)-thalassaemia is caused by the reduced synthesis of alpha-globin chains that form part of normal adult haemoglobin (Hb).
|
18351796 |
2008 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
Coinheritance of alpha-thalassemia with beta 0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of alpha-globin gene triplication in severe thalassemia.
|
18026953 |
2008 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In the 100 cases studied, 99 cases had --(SEA) in combination with deletional alpha(+)-thalassaemia or non-deletional alpha-globin gene mutation involving the alpha2-globin gene.
|
17018682 |
2007 |
|
Thalassemia
|
0.100 |
Biomarker
|
group |
BEFREE |
Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia.
|
16339655 |
2005 |
|
Thalassemia
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The phenotype of thalassemia intermedia with marked dyserythropoiesis, found in patients inheriting alpha-thalassemia mutations along with unstable alpha-globin variants (i.e., alpha-thalassemic hemoglobinopathies), represents a distinct type of thalassemic syndrome.
|
14757425 |
2004 |