Beta-Thalassemia Intermedia

Alias:
Beta Thalassemia Intermedia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Beta-Thalassemia Intermedia, also known as beta thalassemia intermedia, is related to hemoglobin e-beta-thalassemia syndrome and autosomal dominant beta thalassemia. An important gene associated with Beta-Thalassemia Intermedia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Insulin receptor recycling and 3q29 copy number variation syndrome. The drugs Luspatercept and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are osteoporosis and persistence of hemoglobin f
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
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31
268
74

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Mutations
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Related Drugs

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Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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