|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Beta-globin-gene haplotypes, mitochondrial DNA, the Y-chromosome: their impact on the genetic epidemiology of the major structural hemoglobinopathies.
|
15040423 |
2004 |
|
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 |
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 |
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 |
The discovery that mutant beta-globin genes arise on different chromosomal backgrounds has allowed studies of the origin and spread of some of the common haemoglobinopathies.
|
3120465 |
1987 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We found 28 different mutations in the beta-globin gene, including three mutations (beta S, beta C, and beta O-Arab) causing hemoglobinopathies.
|
8178823 |
1994 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our purpose was to develop and evaluate isolation and enrichment of fetal erythroblasts and a nested polymerase chain reaction (PCR) approach using fetal erythroblasts for detecting the beta-globin gene mutations for a noninvasive prenatal diagnosis of hemoglobinopathies.
|
18628088 |
2008 |
|
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 |
GeneticVariation
|
group |
BEFREE |
The hematological data of these unusual cases of hemoglobinopathy are presented and compared with a simple heterozygote for Hb Korle-Bu found in another unrelated Thai family. beta-Globin gene haplotype linked to the Thai beta(Korle-Bu) and a simple DNA assay based on allele-specific PCR for rapid diagnosis of Hb Korle-Bu are also described.
|
12185510 |
2002 |
|
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 |
More than 690 mutations in the human beta-globin gene are usually the cause of beta-type hemoglobinopathies.
|
16924651 |
2007 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We have confirmed the efficiency of this approach with the identification of beta-globin gene point mutation, which results in the reduced production of globin in an inherited hemoglobin disorder thalassemia disease.
|
20152403 |
2010 |
|
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 |
Biomarker
|
group |
BEFREE |
Structure analysis was performed on the key mutations that occur in the native protein coded by the HBB gene that causes hemoglobinopathies such as: HbC (E→K), HbD (E→Q), HbE (E→K) and HbS (E→V).
|
22028795 |
2011 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In this report we summarize our experience with prenatal diagnosis in 95 pregnancies in which the fetus was at risk for a hemoglobinopathy; the diagnosis was performed with use of DNA polymorphisms located so near the beta-globin gene that they are inherited along with that gene.
|
6300677 |
1983 |
|
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.
|
20008178 |
2009 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Because of the general nature of these polymorphisms, which are related to the beta-globin gene and its variants only because of their proximity on chromosome 11, they are potentially useful in the prenatal diagnosis of any beta-chain hemoglobinopathy.
|
2998637 |
1985 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The newly described mechanisms including unstable hemoglobin disorders and somatic deletions in beta-globin gene are elaborated in the present review.
|
19941736 |
2009 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis.
|
19429541 |
2009 |
|
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 |
|
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 |
GeneticVariation
|
group |
BEFREE |
The PCR-SSCP technique might be a useful molecular technique to minimize the requirement of direct genomic sequencing to identify beta-globin gene mutations and could be applied in several developing countries where resources are limited but genetic hemoglobin disorders are highly prevalent.
|
16139831 |
2005 |
|
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 |
Mutations in the β-globin gene (HBB) cause haemoglobinopathies where current treatments have serious limitations.
|
24590875 |
2014 |
|
Hemoglobinopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
This report describes the use of whole-blood spots on filter papers from newborn hemoglobinopathy screening for beta-globin gene cluster haplotyping by the polymerase chain reaction.
|
8980265 |
1997 |