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 |
|---|---|---|---|---|---|---|
| HBS1L | HBS1L:rs9402685 | Expressivity | Altered Hb F levels | OR=0.25, 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 |
| HBG2 | HBG2:rs7482114 | Expressivity | Altered severity | HR=0.512, P<0.001 | ameliorates the clinical severity of β-thalassemiamore | more |
| HBB | HBB:c.44T>G(p.Leu15Arg) | Expressivity | Risk factor | Pedigree analysis | Mutation identified in an Argentinean Family Associated with Secondary Genetic Modifiers of β-Thalassemiamore | more |
| HBB:p.Asp73Asn | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu121Gln | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu121Lys | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu6Lys | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu6Val | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu6Val/Ile | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Leu68Phe | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more |