The Spectrum of SPTA1-Associated Hereditary Spherocytosis

Abstract excerpt

Hereditary spherocytosis (HS) is the most common red blood cell membrane (RBC) disorder causing hereditary hemolytic anemia. Patients with HS have defects in the genes coding ankyrin (ANK1), band 3 (SLC4A1), protein 4.2 (EPB42), and  (SPTA1) or -spectrin (SPTB). Severe recessive HS is most commonly due to biallelic SPTA1 mutations. -spectrin is produced in excess in the normal erythroid cells, therefore...

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