Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report

摘要

Identification of a novel SPTB frameshift mutation. A. Peripheral blood smear of the proband showing moderate spherocytosis (Wright’s-Giemsa staining) (abnormal cells indicated by arrows). B. Wright’s-Giemsa staining of the proband’s bone marrow smear demonstrating erythroblastic hyperplasia dominated with rubricytes and metarubricytes: a, intermediate erythroblasts; b, myeloblasts; c, late erythroblasts. C. Pedigree of the family with a hereditary spherocytosis (HS) case. D. Sanger sequencing confirming the heterozygous mutation of SPTB (c.1756delG). E. The deletion mutation leads to the formation of a truncated SPTB protein (p.Ala586Profs*7)