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GENATLAS PHENOTYPE

last update : 30-04-2015

Symbol	SPH3
Location	1q23.1
Name	hereditary spherocytosis, type III
Corresponding gene	SPTA1
Main clinical features	fatal hemolytic anemia requiring early splenectomy red cell membranes were at least 50p100 deficient in spectrin, with band 1 reduced more than band 2
Genetic determination	autosomal recessive
Function/system disorder	hematology
Type	disease

Gene product

Name	spectrin, alpha, erythrocytic 1 (SPTA1)

Remark(s)

spectrin deficiency (SPTB or SPTA1) in ~20 percent of HS cases

Genotype/Phenotype correlations

beta-spectrin defects associate typically with mild to moderatly severe HS and alpha-spectrin with severe HS