Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Hemoglobinopathies such as beta-thalassemia and sickle cell disease (SCD) are inherited disorders that are caused by mutations in beta-globin chain.
|
30124006 |
2019 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Genetic lesions of the β-globin gene result in haemoglobinopathies such as β-thalassemia and sickle cell disease.
|
30616747 |
2019 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations and acquired PXE clinical manifestations associated with haemoglobinopathies induced by HBB mutations.
|
31646622 |
2019 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Background Thalassemia is a common hereditary anemia in humans, and beta thalassemia represents a group of recessively inherited hemoglobin disorders first described by Cooley and Lee and characterized by the abnormal synthesis of β-globin chain.
|
28948115 |
2017 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population.
|
27828729 |
2017 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the HBB gene are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia.
|
28379995 |
2017 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil.
|
28366028 |
2017 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Three novel HBB mutations, c.-140C>G (-90 C>G), c.237_256delGGACAACCTCAAGGGCACCT (FS Cd 78/85 -20 bp), and c.315+2T>G (IVS2:2 T>G). Update of the mutational spectrum of β-Thalassemia in Mexican mestizo patients.
|
28603845 |
2017 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
|
26635043 |
2016 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.
|
27207683 |
2016 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype.
|
27821015 |
2016 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon.
|
26372288 |
2016 |
Hemoglobinopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
A full understanding of the molecular mechanisms of epigenetic silencing of HbF expression should facilitate the development of more effective treatment of β-globin chain hemoglobinopathies.
|
24880147 |
2015 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recent experimental evidence suggest that besides genomic variation within the human β-globin gene cluster, other variants in modifier genes residing outside the human β-globin gene cluster are significantly associated with response to hydroxyurea treatment in β-type hemoglobinopathies patients, deducted from the increase in fetal hemoglobin levels.
|
25155936 |
2014 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia.
|
25408857 |
2014 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia.
|
25332589 |
2014 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations.
|
24828949 |
2014 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.
|
25089872 |
2014 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the β-globin gene (HBB) cause haemoglobinopathies where current treatments have serious limitations.
|
24590875 |
2014 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes.
|
23590658 |
2013 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Prenatal and newborn screening for hemoglobinopathies.
|
23590658 |
2013 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.
|
23383304 |
2013 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Genotyping of beta thalassemia trait by high-resolution DNA melting analysis.
|
24450243 |
2013 |
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.
|
23321370 |
2013 |
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In the present study, we investigated how these pathways are used in β-thalassemia, a common hemoglobinopathy in which β-globin gene mutations cause the accumulation and precipitation of cytotoxic α-globin subunits.
|
22427201 |
2012 |