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

Symptom Information: Sort by abundance 

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

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: