|
rs1057516674
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057520529
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1060499688
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1114167422
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1554544862
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs33950507
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs41469945
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs747506979
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs76992529
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs878853314
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs878853315
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report the lack of megaloblastic anaemia in a patient with severe methionine synthase deficiency who is also homozygous for C677T in MTHFR, hypothesize that the MTHFR polymorphism protects the patient against anaemia and speculate that homozygosity for MTHFR C677T could cause the dissociation between haematological and neurological disease seen in some patients with vitamin B12 deficiency.
|
9453374 |
1997 |
|
rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The data indicated that differences in the extent of iron overload were not mediated by co-inheritance of the C282Y mutation in the HFE gene but could largely be explained by differences in the severity of anaemia and ineffective erythropoiesis, and in the age of the patient.
|
10583252 |
1999 |
|
rs104894815
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1.
|
10700180 |
2000 |
|
rs104894808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we describe a new family with deep macrothrombocytopenia, marked anemia and early mortality, if untreated, due to a different GATA1 mutation (D218Y) in the same residue 218 also implicated in the above mentioned milder phenotype.
|
11809723 |
2002 |
|
rs104894816
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia.
|
11809723 |
2002 |
|
rs11568350
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that the Q248H mutation is a common polymorphism in the ferroportin 1 gene in African populations that may be associated with mild anemia and a tendency to iron loading.
|
14636642 |
2004 |
|
rs1799945
|
|
|
0.010 |
GeneticVariation |
BEFREE |
From what we observed in our study, C282Y/H63D HFE gene mutations are not related to degrees of anemia or iron stores in CRI patients receiving intravenous iron supplementation (P > 0.10).
|
16138214 |
2005 |
|
rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two had severe iron overload and no anemia: one also had HFE C282Y homozygosity, and the other was wildtype for HFE and other iron-related genes.
|
16446107 |
2007 |
|
rs768843272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We thus detected the novel TFR2 missense mutation I449V (exon 10; nt 1345 A --> G) in the proband's wife and daughter, neither of whom had anemia or iron overload.
|
16540354 |
2006 |
|
rs4986790
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, in P. falciparum-infected women, both the TLR4 Asp299Gly and the TLR9 T-1486C polymorphisms increased the risk of low birth weight in term infants 6-fold, and, additionally, TLR4 Asp299Gly increased the risk of maternal anemia 5-fold; preterm delivery was not associated with these TLR variants.
|
16779724 |
2006 |
|
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Apoptotic resistance in MMM correlated with anemia (P=0.01) and the JAK2-V617F (P=0.01).
|
16871275 |
2006 |
|
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/K), were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012).
|
17408465 |
2007 |
|
rs121913615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/K), were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012).
|
17408465 |
2007 |
|
rs28933979
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The increase of anemia after OLT and the maintenance of a defective endogenous Epo production after liver transplantation excluded an inhibitory effect of the circulating TTR V30M on the Epo-producing cells.
|
17453623 |
2007 |