Hemoglobin E Disease

Alias:
Hemoglobin E
Hb-E Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemoglobin E Disease, also known as hemoglobin e, is related to hemoglobin se disease and glucosephosphate dehydrogenase deficiency. An important gene associated with Hemoglobin E Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Erythrocytes take up carbon dioxide and release oxygen. The drug Chrysarobin has been mentioned in the context of this disorder. Affiliated tissues include bone marrow and spinal cord, and related phenotypes are abnormal hemoglobin and hypochromic microcytic anemia
Related ID:
ICD11:1898135714

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
--
17
107
4

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
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IF
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