PMC5779785_01
Pedigree analysis and peripheral blood smears of the proband. (A) Pedigree analysis of a Korean hereditary spherocytosis with a novel nonsense mutation in SPTB. Proband (indicated by the arrow) revealed the c.1956G>A; p.Trp652* in the heterozygous state. Gray symbols indicate clinically affected individuals not tested for the mutation. (B) Peripheral blood smears demonstrate moderate spherocytosis, about 10 to 20 cells per high power field (Wright-Giemsa stain, x1000 magnification).
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F1
On the peripheral blood (PB) smear, round, densely staining spherical-shaped RBCs (spherocytes) were frequently found about 10 to 20 cells per high power field, that lack central pallor and have a smaller than normal diameter (Fig. 1B). Pedigree analysis of the proband's family members revealed that her 3rd son (Fig. 1A, individual II-3) showed similar symptoms such as anemia and jaundice, 2 grandchildren (Fig. 1A, individuals III-1 and III-2) experienced neonatal jaundice after birth (Table 1).
One heterozygous mutation of SPTB was identified by targeted next-generation sequencing and confirmed by Sanger sequencing. A novel nonsense mutation annotated as c.1956G>A; p.Trp652* in exon 13.
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F2
Pedigree analysis of the proband's family members revealed that her 3rd son (Fig. 1A, individual II-3) showed similar symptoms such as anemia and jaundice, 2 grandchildren (Fig. 1A, individuals III-1 and III-2) experienced neonatal jaundice after birth (Table 1). As a result, 1 heterozygous nonsense mutation, c.1956G>A; p.Trp652* (reference sequence: NM_001024858.2), was identified in the exon 13 of SPTB gene (Fig. 2).