Beta-Thalassemia (B-THAL)

Alias:
Beta Thalassemia
Mediterranean Anemia
Cooley's Anemia
Erythroblastic Anemia
Beta-Plus-Thalassemia
Thalassemia, Beta
Thalassemia Minor
Thalassemia Major
Thalassemia, Hispanic Gamma-Delta-Beta
Beta Thalassemia Intermedia
Beta Thalassaemia Syndrome
Beta-Thalassemia Hbb/lcrb
Beta Thalassaemia Disease
Thalassemia, Beta Type
Mediterranean Anaemia
Mediterranean Disease
B-Thal
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Beta-Thalassemia, also known as beta thalassemia, is related to hemoglobin e-beta-thalassemia syndrome and beta-thalassemia, dominant inclusion body type. An important gene associated with Beta-Thalassemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Golgi-to-ER retrograde transport. The drugs Peginterferon alfa-2a and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include liver and spleen, and related phenotypes are splenomegaly and anemia
Related ID:
MESH:D017086
ICD11:2063292324

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Infant
1-5/10000
80
925
628

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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