Disorder "Beta-thalassemia intermedia"
Found 1 record
Disorder information
Disorder name:
Beta-thalassemia intermedia
Disoder ID:
OMIM entry:
Definition:
Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered level of HbF(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| HBG1 | HBG1:n.-4895G>A | Expressivity | Altered level of HbF | Gene activity study | The change may raise the level of HbFmore | more |
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