The Spectrum of SPTA1-Associated Hereditary Spherocytosis

The Spectrum of SPTA1-Associated Hereditary Spherocytosis

Hereditary spherocytosis (HS) is the most common red blood cell (RBC) membrane disorder causing hereditary hemolytic anemia. Patients with HS have defects in the genes coding for ankyrin (ANK1), band 3 (SLC4A1), protein 4.2 (EPB42), and α (SPTA1) or β-spectrin (SPTB). Severe recessive HS is most com...

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Bibliographic Details
Main Authors: Satheesh Chonat, Mary Risinger, Haripriya Sakthivel, Omar Niss, Jennifer A. Rothman, Loan Hsieh, Stella T. Chou, Janet L. Kwiatkowski, Eugene Khandros, Matthew F. Gorman, Donald T. Wells, Tamara Maghathe, Neha Dagaonkar, Katie G. Seu, Kejian Zhang, Wenying Zhang, Theodosia A. Kalfa
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Physiology
Subjects:
SPTA1
α-spectrin
αLEPRA
hereditary spherocytosis
next generation sequencing
hemolytic anemia
Online Access:https://www.frontiersin.org/article/10.3389/fphys.2019.00815/full

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https://www.frontiersin.org/article/10.3389/fphys.2019.00815/full

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