Hemoglobin C - beta-thalassemia
General Information (adopted from Orphanet):
Synonyms, Signs:
|
C- beta-thalassemia
HbC - beta-thalassemia
|
Number of Symptoms
|
4
|
OrphanetNr:
|
231242
|
OMIM Id:
|
|
ICD-10:
|
D58.2
|
UMLs:
|
|
MeSH:
|
|
MedDRA:
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
Prevalence:
|
No data available.
|
Inheritance:
|
Autosomal recessive
[Orphanet]
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
Beta-thalassemia associated with another hemoglobin anomaly
-Rare genetic disease
-Rare hematologic disease
|
|
|
|
|
|
|
|
|
1
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
2
|
(HPO:0001935)
|
Microcytic anemia |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
3
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
4
|
(HPO:0011902)
|
Abnormal hemoglobin |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |