case_images: PMC10749931_01
case_images: Peripheral blood smear revealed elliptocytes with varying cell sizes that appeared as teardrops, fragments, and rod-shaped forms (Wright-Giemsa stained; 400 x magnification).
case_images: fmed-10-1301760-g001.jpg
case_images: PMC10749931_01_fmed-10-1301760-g001.jpg
case_images: fig1
case_images: Teardrops, fragments, and rod-shaped red blood cells were visible (Figure 1).
case_images: Characteristics and validation of SPTB mutation. (A) Diagrammatic representation of SPTB with known protein domains. The mutation c.2303G>A (p.G768D) found in this study had been indicated. (B) Sanger sequencing confirmed SPTB mutation. (C) Multiple sequence alignment of homologs from different species. Conservative regions were marked.
case_images: fmed-10-1301760-g002.jpg
case_images: PMC10749931_01_fmed-10-1301760-g002.jpg
case_images: fig2
case_images: A heterozygous missense mutation c.G2303A (p.G768D) was detected in the SPTB gene (Figure 2A). We validated the suspicious mutation of the SPTB gene using Sanger sequencing, and the results were consistent with high-throughput sequencing (Figure 2B). This mutation site is highly conserved in function and evolution among different species (Figure 2C).