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hereditary spherocytosis type 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.
Uniprot Description A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder.
Mondo Term and Equivalent IDs
MONDO:0008447:  hereditary spherocytosis type 1
UMLS:C2674218: