Anemia, Sickle Cell
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genetic variants at three quantitative trait loci (QTL) for fetal haemoglobin (HbF), BCL11A, HBS1L-MYB and the β-globin gene cluster, have attracted interest as potential targets of therapeutic strategies for HbF reactivation in sickle cell anaemia (SCA).
|
29879141 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Globally, sickle cell disease (SCD) is one of the commonest severe monogenic disorders, due to the inheritance of two abnormal haemoglobin (beta globin) genes.
|
30067867 |
2018 |
Anemia, Sickle Cell
|
0.800 |
Biomarker
|
disease |
BEFREE |
Variability of homozygous sickle cell disease: The role of alpha and beta globin chain variation and other factors.
|
28689691 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is caused by a mutation of the β-globin gene (Ingram VM.
|
30067082 |
2018 |
Anemia, Sickle Cell
|
0.800 |
Biomarker
|
disease |
BEFREE |
Sickle cell anemia (SCA) and β -thalassemia major are well-recognized beta-globin gene disorders of red blood cells associated to mortality and morbidity included bone morbidities due to ineffective erythropoiesis and bone marrow expansion, which affect every part of the skeleton.
|
29447888 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is an inherited blood disorder caused by a single amino acid substitution in the β-globin chain of hemoglobin.
|
30198339 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β.
|
29542687 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell anemia (SCA) is an autosomal recessive disorder caused by mutation in the β-globin gene.
|
28823762 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a monogenetic disorder caused by a mutation in the β-globin gene HBB leading to polymerization of red blood cells causing damage to cell membranes, increasing its rigidity and intravascular hemolysis.
|
29614633 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The primary β-globin gene mutation that causes sickle cell disease (SCD) has significant pathophysiological consequences that result in hemolytic events and the induction of the inflammatory processes that ultimately lead to vaso-occlusion.
|
29614637 |
2018 |
Anemia, Sickle Cell
|
0.800 |
Biomarker
|
disease |
BEFREE |
Sickle cell disease (SCD) is an inherited disease of the beta globin gene.
|
29157167 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is an inherited disorder caused by a variant (<i>rs</i>334) in the β-globin gene encoding hemoglobin.
|
29385701 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
β-hemoglobinopathies such as sickle cell disease (SCD) and β-thalassemia result from mutations in the adult HBB (β-globin) gene.
|
29610478 |
2018 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This strategy of restoring functional HBB gene expression will be able to correct most types of HBB gene mutations in β-thal and SCD.
|
29164808 |
2018 |
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 |
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 |
β-thalassemia and sickle cell disease (SCD) are prototypical Mendelian single gene disorders, both caused by mutations affecting the adult β-globin gene.
|
29127676 |
2017 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is an autosomal recessive disease in which homozygosity for a single point mutation in the gene encoding the β-globin chain produces hemoglobin S molecules that polymerize within the erythrocyte during deoxygenation; the result is sustained hemolytic anemia and vaso-occlusive events.
|
29222288 |
2017 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes.
|
28094851 |
2017 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is an inherited blood disorder caused by a β globin gene mutation of hemoglobin (HbS).
|
28770911 |
2017 |
Anemia, Sickle Cell
|
0.800 |
Biomarker
|
disease |
BEFREE |
HBB mutations can be roughly divided into two categories: those that cause a dysfunctional protein (such as sickle cell disease but also including varied diseases caused by high-affinity hemoglobins, low-affinity hemoglobins, and methemoglobinemia) and those that cause the insufficient production of HBB protein (β-thalassemia).
|
29127682 |
2017 |
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.
|
28672087 |
2017 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A phased SNP-based classification of sickle cell anemia HBB haplotypes.
|
28800727 |
2017 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HBB gene are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia.
|
28379995 |
2017 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) results from a point mutation in the β-globin gene forming hemoglobin S (HbS), which polymerizes in deoxygenated erythrocytes, triggering recurrent painful vaso-occlusive crises and chronic hemolytic anemia.
|
29046485 |
2017 |