Hemoglobin H Disease (HBH)

Alias:
Hemoglobin H Disease, Nondeletional
Hbh
Hemoglobin H Disease, Deletional
Alpha-Thalassemia Intermedia
Haemoglobin H Disease
Alpha - /- - or Mutational Forms of Alpha-Thalassaemia
Hemoglobin H Disease, Deletional and Nondeletional
Alpha Thalassemia, Haemoglobin H Type
Alpha-Thalassemia, Hemoglobin H Type
Alpha Thalassemia, Hemoglobin H Type
Alpha-Thalassemia Hemoglobin H Type
Hemoglobin H Disease Non-Deletional
Haemoglobin H Disease, Deletional
Hemoglobin H Disease Deletional
Alpha Thalassaemia Intermedia
Alpha-Thalassemia
Hbh Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemoglobin H Disease, also known as hbh, is related to histiocytosis-lymphadenopathy plus syndrome and splenomegaly. An important gene associated with Hemoglobin H Disease is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Circadian Clock and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Mitapivat and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are splenomegaly and hepatomegaly
Related ID:
MESH:D017085
ICD11:9436211

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/1000000
29
179
35

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
No Data Found!
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