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Hereditary Spherocytosis

Prevalence: 1/2000

hematologic

Official·OMIM:182900 Official·ORPHA822

Erythrocyte membrane defect due to ANK1, SLC4A1, or spectrin gene mutations.

Associated Genes

ANK1Ankyrin 1

Chromosome 8Autosomal Dominant

SLC4A1Solute Carrier Family 4 Member 1

Chromosome 17Autosomal Dominant

SPTA1Spectrin Alpha Erythrocytic 1

Chromosome 1Autosomal Recessive