Hemoglobin E - beta-thalassemia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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HbE - beta-thalassemia
E-beta-thalassemia
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Number of Symptoms
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4
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OrphanetNr:
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231249
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OMIM Id:
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ICD-10:
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D58.2
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UMLs:
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C0472777
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MeSH:
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MedDRA:
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Snomed:
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234392002
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive
[Orphanet]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Beta-thalassemia associated with another hemoglobin anomaly
-Rare genetic disease
-Rare hematologic disease
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1
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(HPO:0011902)
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Abnormal hemoglobin |
Very frequent [Orphanet]
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18 / 7739
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2
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(HPO:0001903)
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Anemia |
Very frequent [Orphanet]
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289 / 7739
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3
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(HPO:0011031)
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Abnormality of iron homeostasis |
Frequent [Orphanet]
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16 / 7739
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4
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(HPO:0010978)
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Abnormality of immune system physiology |
Very frequent [Orphanet]
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148 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |