Disorder "Beta Thalassemia"
Found 36 records
Disorder information
Disorder name:
Beta Thalassemia
Disoder ID:
OMIM entry:
Definition:
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
Modifier statisitcs
Record:
36
Gene:
10
Variant:
33
Reference:
10
Effect type:
Expressivity(36)
Modifier effect:
Altered severity(11)
,Altered hemoglobin level(9)
,Altered Hb F levels(6)
,Altered level of hepcidin(3)
,Risk factor(2)
,Altere level of ferritin(1)
,Altered ferritin level(1)
,Altered HbF level(1)
,Altered gene activity(1)
,Altered level of fetal hemoglobin(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KLF1 | KLF1:rs483352838 | Expressivity | Altered severity | HR=0.213, 95% CI: 0.119-0.379, P<0.001 | Ameliorates the clinical severity of β-thalassemiamore | more |
| KLF1:rs483352839 | Expressivity | Altered severity | HR=0.213, 95% CI: 0.119-0.379, P<0.001 | Ameliorates the clinical severity of β-thalassemiamore | more | |
| KLF1:rs483352840 | Expressivity | Altered severity | HR=0.213, 95% CI: 0.119-0.379, P<0.001 | Ameliorates the clinical severity of β-thalassemiamore | more | |
| KLF1:rs483352841 | Expressivity | Altered severity | HR=0.213, 95% CI: 0.119-0.379, P<0.001 | Ameliorates the clinical severity of β-thalassemiamore | more | |
| KLF1:rs483352842 | Expressivity | Altered severity | HR=0.213, 95% CI: 0.119-0.379, P<0.001 | Ameliorates the clinical severity of β-thalassemiamore | more | |
| HFE | HFE:c.187C>G(p.His63Asp) | Expressivity | Altered ferritin level | P=0.022 | The H63D mutation have higher ferritin levels than beta-thalassemia carriers with the H/H genotype, suggesting that the H63D mutation may have a modulating effect on iron absorption.more | more |
| HBS1L | HBS1L:n.135419631A>G | Expressivity | Risk factor | OR=4.61, 95% CI: 2.18-10.76 | Single nucleotide polymorphism rs9389268 in the HBS1L-MYB locus was significantly more frequent in the thalassemia intermedia patients.more | more |
| HBS1L:n.135418916A>G | Expressivity | Altered Hb F levels | OR=4, P<0.01 | High-risk genotypes of six HbF-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high HbF levelsmore | more | |
| HBS1L:rs9376090 | Expressivity | Altered Hb F levels | OR=4, P<0.01 | High-risk genotypes of six HbF-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high HbF levelsmore | more | |
| HBS1L:n.135419631A>G | Expressivity | Altered Hb F levels | OR=4, P<0.01 | High-risk genotypes of six HbF-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high HbF levelsmore | more |