|
rs121912748
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A patient with compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia presented with hemolytic anemia and hepatosplenomegaly which was alleviated by alkaline therapy.
|
18266205 |
2008 |
|
rs121912748
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A patient with compound heterozygous Southeast Asian ovalocytosis/G701D and heterozygous alpha(+)-thalassemia showed severe hemolytic anemia.
|
17533027 |
2007 |
|
rs1799945
|
|
|
0.020 |
GeneticVariation |
BEFREE |
H63D mutation of the hemochromatosis gene and serum ferritin levels in Thai thalassemia carriers.
|
17637512 |
2007 |
|
rs1799945
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Of these, no allele of the C282Y mutation was seen, while 3 homozygous and 43 heterozygous for the H63D mutation were seen in the patients of thalassemia group.
|
17401564 |
2007 |
|
rs12979860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CC at rs12979860 and TT at rs8099917 was strongly associated with spontaneous clearance and SVR in the population with thalassemia.
|
28419488 |
2017 |
|
rs368698783
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe the characterization of the rs368698783 (+25 G->A) polymorphism of the Aγ-globin gene associated in β<sup>0</sup>39 thalassemia patients with high HbF in erythroid precursor cells.
|
28851297 |
2017 |
|
rs3760053
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A multiplex PCR assay was developed to detect simultaneously the (-<sup>SEA</sup>) allele and genotyping of a linked (rs3760053) to improve accuracy of prenatal diagnosis of α<sup>0</sup>-thalassemia.
|
28381876 |
2017 |
|
rs8099917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CC at rs12979860 and TT at rs8099917 was strongly associated with spontaneous clearance and SVR in the population with thalassemia.
|
28419488 |
2017 |
|
rs72661131
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
|
26516624 |
2015 |
|
rs855791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In particular, the V736A TMPRSS6 polymorphism was associated to moderately lower hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin levels, and in thalassemia carriers with marked anemia and microcytosis.
|
25557470 |
2015 |
|
rs766432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To study the influence of the β globin locus control region (LCR) genotypic background on the phenotype modifying role of BCL11A polymorphisms, 100 cases of thalassemia, 48 homozygous for the A allele and 52 homozygous for the G allele at the 5'HS4-LCR palindromic polymorphic site were genotyped for two BCL11A single nucleotide polymorphisms (rs11886868 and rs766432) in the intronic region of this gene.
|
23541515 |
2013 |
|
rs33950507
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HbE, the result of a G to A mutation in codon 26 of the HBB (β-globin) gene, activates a cryptic 5' splice site in codon 25 leading to a reduction of correctly spliced β(E) -globin (HBB:c.79G>A) mRNA and consequently β(+) -thalassaemia.
|
21732929 |
2011 |
|
rs387906544
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HbE, the result of a G to A mutation in codon 26 of the HBB (β-globin) gene, activates a cryptic 5' splice site in codon 25 leading to a reduction of correctly spliced β(E) -globin (HBB:c.79G>A) mRNA and consequently β(+) -thalassaemia.
|
21732929 |
2011 |
|
rs41467944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HbE, the result of a G to A mutation in codon 26 of the HBB (β-globin) gene, activates a cryptic 5' splice site in codon 25 leading to a reduction of correctly spliced β(E) -globin (HBB:c.79G>A) mRNA and consequently β(+) -thalassaemia.
|
21732929 |
2011 |
|
rs9399137
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region.
|
21791466 |
2011 |
|
rs186590045
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A kinetic analysis has been made of the interaction of alpha-Hb chains with a mutant alpha-hemoglobin stabilizing protein, AHSP(V56G), which is the first case of an AHSP mutation associated with clinical symptoms of mild thalassemia syndrome.
|
20371604 |
2010 |
|
rs334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thalassaemia and sickle cell disease (SCD) represent the most common forms of hereditary haemolytic anaemia and result from a partial or complete lack of synthesis of one of the major alpha- or beta-globin chains of haemoglobin A or from a single amino acid mutation (beta(6Glu-->Val)) of the beta-globin chain respectively.
|
17854302 |
2007 |
|
rs104894809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report here that a syndrome of X-linked thrombocytopenia with thalassemia in humans is caused by a missense mutation (Arg216Gln) in the GATA-1 N finger.
|
12200364 |
2002 |
|
rs1283391088
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. beta-Globin genotyping shows here to be compound heterozygous for the codon 39 C-->T beta zero-nonsense mutation and for the T-->C beta(+)-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C-->T/IVS1-6 T-->C). alpha-Globin gene mapping demonstrates the presence of a 3.7-kb alpha (+)-thalassemia deletion on one allele (-alpha 3.7/alpha alpha).
|
8431522 |
1993 |
|
rs766814208
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. beta-Globin genotyping shows here to be compound heterozygous for the codon 39 C-->T beta zero-nonsense mutation and for the T-->C beta(+)-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C-->T/IVS1-6 T-->C). alpha-Globin gene mapping demonstrates the presence of a 3.7-kb alpha (+)-thalassemia deletion on one allele (-alpha 3.7/alpha alpha).
|
8431522 |
1993 |