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 |
|---|---|---|---|---|---|---|
| HBB | HBB:p.Thr87Ile | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more |
| HBB:p.Val23Ile | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| CEBPE | CEBPE:rs45496295 | Expressivity | Altered severity | Assessment of genotype–phenotype associations | The T allele of rs45496295, associated with moderate type of β-thal, seems to modify the C/EBP action, thereby preventing the hemolysis.more | more |
| BCL11A | BCL11A:c.386-24002G>T | Expressivity | Altered severity | HR=0.761, P<0.001 | ameliorates the clinical severity of β-thalassemiamore | more |
| BCL11A:c.386-24278G>A | Expressivity | Altered level of fetal hemoglobin | P<10(-35) | BCL11A variants, by modulating HbF levels, act as an important ameliorating factor of the beta-thalassemia phenotype, and it is likely they could help ameliorate other hemoglobin disorders.more | more | |
| BCL11A:rs189984760 | Expressivity | Altered Hb F levels | OR=2.61, 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 |