Hemoglobin H Disease (HBH)

Hemoglobin H Disease(来自ICD-11)
别称:
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
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相关ID:
MESH:D017085
ICD11:9436211

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
All ages
1-9/1000000
29
177
35

疾病表征

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表征
HPO概率
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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

类型
名称
MGI
相关基因
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文献数量
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文献报道

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