Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our studies on the Saudi population from different regions of the country using Hinc II and Hind III showed that the beta-globin gene haplotype ++-++ is associated with a mild sickle cell anaemia, while ----+ is associated with the severe form of the disease.
|
8095305 |
1993 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell anemia (SCA, HBB glu6val) is characterized by multiple complications and a high degree of phenotypic variability: some subjects have only sporadic pain crises and few acute hospitalizations, while others experience multiple serious complications, high levels of morbidity, and accelerated mortality [1].
|
21264913 |
2011 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used prime editing in human cells to correct, efficiently and with few byproducts, the primary genetic causes of sickle cell disease (requiring a transversion in HBB) and Tay-Sachs disease (requiring a deletion in HEXA); to install a protective transversion in PRNP; and to insert various tags and epitopes precisely into target loci.
|
31634902 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the synthesis of TFOs designed to target a site in the human beta-globin gene, which is the locus for mutations that underlie the beta-globinopathies, including sickle cell anemia.
|
16460044 |
2006 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SCD-corrected hiPSC lines showed gene conversion of the mutated βS to the wild-type βA in one of the HBB alleles, while the other allele remained a mutant phenotype.
|
25245091 |
2014 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hematological effects of atypical and Cameroon beta-globin gene haplotypes in adult sickle cell anemia.
|
9766796 |
1998 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a genetic disease caused by mutations in the beta globin gene, and inflammation plays a key role in driving many aspects of disease pathology.
|
28760671 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution.
|
1195378 |
1975 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is the best known haemoglobinopathy, caused by a mutation substituting valina for glutamic acid at position 6 of the beta-globin chain of adult hemoglobin A, resulting in hemoglobin S (HbS).
|
30843001 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
New variants in beta globin gene among the Palestinian refugees with sickle cell disease in Lebanon.
|
30520510 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a group of inherited blood disorders caused by mutations in the human β-globin gene, leading to the synthesis of abnormal hemoglobin S, chronic hemolysis, and oxidative stress.
|
30674214 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle Cell Disease (SCD) is a painful, lifelong hemoglobinopathy inherited as a missense point mutation in the hemoglobin (Hb) beta-globin gene.
|
28378932 |
2017 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that siblings with sickle cell disease are likely to share the same parental beta-like globin gene clusters with their cis-acting regulatory sequences and therefore, if regulation of this response is linked to the beta-globin gene cluster, might have concordant HbF responses to HU.
|
12555216 |
2003 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes.
|
28500860 |
2017 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For over 100 years, clinicians and scientists have been unravelling the consequences of the A to T substitution in the β-globin gene that produces haemoglobin S, which leads to the systemic manifestations of sickle cell disease (SCD), including vaso-occlusion, anaemia, haemolysis, organ injury and pain.
|
30514970 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell anemia (SCA) is caused by a point mutation in the β-globin gene that leads to devastating downstream consequences including chronic hemolytic anemia, episodic vascular occlusion, and cumulative organ damage resulting in death.
|
31076408 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Chronic inflammatory state in sickle cell anemia patients is associated with HBB(*)S haplotype.
|
24290434 |
2014 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is caused by a mutation in both beta globin genes, resulting in chronic hemolysis and multiorgan disease that ultimately leads to premature death.
|
23190149 |
2013 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain.
|
26296885 |
2015 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.
|
24361300 |
2014 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a hematologic disorder caused by a missense mutation in the adult β-globin gene.
|
22042865 |
2011 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We did not observe any significant associations between HBB haplotype and SCD disease course in this cohort.
|
25748438 |
2015 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To analyze the frequency of the haplotypes of β-globin gene cluster in randomly selected patients with sickle cell disease (SCD), attended in the Children's Hospital of Panama.
|
21387457 |
2011 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
How malaria has affected the human genome and what human genetics can teach us about malaria.
|
16001361 |
2005 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Introduction</b>: Sickle cell disease (SCD) is caused by a mutation in the HBB gene which is key for making a component of hemoglobin.
|
31847604 |
2020 |