|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia's diagnosis and management.
|
31060505 |
2019 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Alpha thalassemia was found in 41 (41.0%) patients compared to 24 (38.1%) controls (P = 0.744), and all were due to the 3.7 κb α-globin gene deletions.
|
30129219 |
2019 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype.
|
30489691 |
2019 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation.
|
29749692 |
2018 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Low red cell indices occurred in iron-replete students with alpha-thalassaemia including those with single alpha-globin gene deletions.
|
29409695 |
2018 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia.
|
28887661 |
2017 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation.
|
28342932 |
2017 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Northern Thailand is one of the highest α-thalassemia incidence areas where 30-40% of inhabitants have been reported to carry aberrant α-globin genes.
|
27077764 |
2016 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C).
|
26757782 |
2016 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly.
|
27271331 |
2016 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The result showed 97% sensitivity in α-thalassemia carriers with 2 α-globin genes deletion and Hb H disease.
|
25450870 |
2015 |
|
alpha-Thalassemia
|
0.800 |
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-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number.
|
24930900 |
2015 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Alpha-thalassemia (α-thal) is a disorder caused by the deletion of single or double α-globin genes, and/or point mutations in the α-globin genes.
|
26593158 |
2015 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Alpha-thalassemia is characterized by reduction or absence of the α-globin chains due to deletional or non-deletional mutations of α-globin genes located on chromosome 16.
|
26474154 |
2015 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
From the nature of substituted residues in α2-globin, it is widely expected that this mutation leads to unstable and truncated protein and should be detected in couples at risk for α-thalassemia.
|
24979558 |
2014 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
DNA analysis of α globin genes showed absence of both deletional and non- deletional α thalassemia.
|
24074398 |
2014 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Due to the relatively more complex genetics of α-thalassemia, a similar relationship was demonstrated for α-globin gene mutations only from the 1980s, with both single- and double-α-globin gene deletions prevalent in the malarial belt.
|
23289742 |
2013 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The predominant determinants of α-thalassemia are deletions in the human α-globin gene cluster.
|
23810501 |
2013 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Alpha thalassaemia and extended alpha globin genes in Sri Lanka.
|
23138098 |
2013 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Approximately 80% of α-thalassemia mutations are deletions in the α-globin cluster on chromosome 16 and about 10% of β-thalassemia mutations are deletions in the β-globin gene cluster on chromosome 11.
|
23491071 |
2013 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: laboratory diagnosis and clinical importance.
|
24018802 |
2013 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For identifying the α-thalassemia (α-thal) genotype, investigation of common Mediterranean α-globin gene deletions (-α3.7, -α4.2 -α20.5 and --MED) was performed by Gap-PCR.
|
22924376 |
2012 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
To identify the copy number of α-globin genes in α-thalassemia, we developed a novel method using a multiplex polymerase chain reaction (PCR) in combination with the CE analysis.
|
22374170 |
2012 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Over 80% of the α-thalassemia cases in southern China are caused by large deletions involving the α-globin gene cluster on chromosome 16p13.3.
|
20645100 |
2011 |