Hereditary persistence of fetal hemoglobin - beta-thalassemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HPFH - beta-thalassemia |
| Number of Symptoms | 6 |
| OrphanetNr: | 46532 |
| OMIM Id: |
141749
142335 142470 305435 613566 |
| ICD-10: |
D56.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Beta-thalassemia associated with another hemoglobin anomaly
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0000924) | Abnormality of the skeletal system | Frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0000980) | Pallor | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0011902) | Abnormal hemoglobin | Very frequent [Orphanet] | 18 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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