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GENATLAS PHENOTYPE

last update : 24-03-2009

Symbol	SPH4
Location	17q21-q22
Name	hereditary spherocytosis, type V
Other name(s)	erythroid protein band 3 deficiency
Corresponding gene	SLC4A1
Other symbol(s)	EPB3
Main clinical features	haemolytic anemia of variable severity mushroom-shaped or "pincered" red cells in addition to spherocytes
Genetic determination	autosomal dominant
Function/system disorder	hematology
Type	disease

Gene product

Name	erythroid anion exchange protein, band 3 (EPB3, SLC4A1)

Remark(s)

15-20 percent of HS cases