A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants

• Main Authors: Yang Wang (Author), Tao Liu (Author), Chenxi Jia (Author), Li Xiao (Author), Wen Wang (Author), Yongjie Zhang (Author), Yan Xiang (Author), Lan Huang (Author), Jie Yu (Author)
• Format: Book
• Published: BMC, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Hereditary spherocytosis (HS, MIM#612641) is one of the most common hereditary hemolytic disorders. This study aimed to confirm a novel variant's pathogenicity and reveal a patient's genetic etiology. Methods The clinical data of a patient with HS who underwent genetic...