Hereditary Spherocytosis (HS)

Hereditary Spherocytosis(来自ICD-11)
别称:
Congenital Spherocytic Hemolytic Anemia
Minkowski-Chauffard Disease
Spherocytosis, Type 1
Spherocytic Anemia
Anemia, Hereditary Spherocytic Hemolytic
Minkowski Chauffard Syndrome
Minkowski-Chauffard Syndrome
Spherocytosis, Hereditary
Congenital Spherocytosis
Spherocytosis Hereditary
Hs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to spherocytosis, type 1 and bilirubin metabolic disorder, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Interaction between L1 and Ankyrins. The drugs Papaya and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include spleen and skin, and related phenotypes are increased red cell osmotic fragility and muscle weakness
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相关ID:
MESH:D013103

基础信息

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参考文献
MALACARDS
AR
AD
All ages
1-5/10000
48
310
6

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