Beta-thalassemia associated with another hemoglobin anomaly
General Information (adopted from Orphanet):
Synonyms, Signs: |
Beta-thalassemia associated with another Hb anomaly |
Number of Symptoms | 6 |
OrphanetNr: | 231230 |
OMIM Id: |
|
ICD-10: |
D58.2 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Beta-thalassemia and related diseases
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
|
(HPO:0001971) | Hypersplenism | Very frequent [Orphanet] | 8 / 7739 | |||
|
(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
|
(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
|
(HPO:0001878) | Hemolytic anemia | Very frequent [Orphanet] | 83 / 7739 | |||
|
(HPO:0011902) | Abnormal hemoglobin | Very frequent [Orphanet] | 18 / 7739 | |||
|
(HPO:0001935) | Microcytic anemia | Very frequent [Orphanet] | 32 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|