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 |
|---|---|---|---|---|---|---|
| TMPRSS6 | TMPRSS6:c.1536C>T(p.Asp512Asp) | Expressivity | Altered level of hepcidin | P=0.008 | Variants in genes regulating hepcidin (TMPRSS6) and iron exporter gene (SLC40A1) have a potential impact in determining body iron stores in beta thalassemia major.more | more |
| TMPRSS6:c.1842-6_1842-2del | Expressivity | Altered level of hepcidin | P=0.008 | Variants in genes regulating hepcidin (TMPRSS6) and iron exporter gene (SLC40A1) have a potential impact in determining body iron stores in beta thalassemia major.more | more | |
| TMPRSS6:c.2246T>C(p.Val749Ala) | Expressivity | Altered level of hepcidin | P=0.01 | Variants in genes regulating hepcidin (TMPRSS6) and iron exporter gene (SLC40A1) have a potential impact in determining body iron stores in beta thalassemia major.more | more | |
| SLC40A1 | SLC40A1:rs371896375 | Expressivity | Altere level of ferritin | P=0.017 | Variants in genes regulating hepcidin (TMPRSS6) and iron exporter gene (SLC40A1) have a potential impact in determining body iron stores in beta thalassemia major.more | more |
| NONE | NONE:n.135419018T>C | Expressivity | Altered severity | HR=0.724, P<0.001 | Ameliorates the clinical severity of β-thalassemiamore | more |
| NONE:n.135419018T>C | Expressivity | Altered Hb F levels | OR=4, P<0.01 | High-risk genotypes of six Hb F-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high Hb F levelsmore | more | |
| KLF1 | KLF1:c.862A>T(p.Lys288*) | Expressivity | Altered HbF level | From review article | K288X mutation in KLF1 that disrupted the DNA-binding domain of KLF1, a key erythroid gene regulator.more | more |
| KLF1:c.862A>T(p.Lys288*) | Expressivity | Altered gene activity | Gene activity study | KLF1 p.K288X carriers had reduced BCL11A expressionmore | more | |
| KLF1:rs137852688 | Expressivity | Altered severity | HR=0.213, 95% CI: 0.119-0.379, P<0.001 | Ameliorates the clinical severity of β-thalassemiamore | more | |
| KLF1:rs387907598 | Expressivity | Altered severity | HR=0.213, 95% CI: 0.119-0.379, P<0.001 | Ameliorates the clinical severity of β-thalassemiamore | more |