case_images: PMC11211870_01
case_images: Peripheral blood smear (arrows show small spherical red blood cells) (HE staining).
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case_images: Mature red blood cells of various sizes, polychromatic erythrocytes, and spherical red blood cells were also observed (Figure 1).
case_images: Sanger sequencing results of SPTB and ASXL1 genes (the overlapping peaks caused by insertion mutation in the sequencing signal during unidirectional sequencing precisely indicate that a base is missing here).
case_images: j_biol-2022-0904-fig002.jpg
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case_images: Genetic disease related gene sequencing of the patient's genomic DNA using peripheral blood samples obtained at another hospital (Figures 2 and 3) showed SPTB c.3449G > A (p.Trp1150*) heterozygosity, ASXL1 c. 1275del (p.Tyr425*) suspected heterozygosity, a Chr8 duplication, UGT1A1 c. 211G > A(p.Gly71Arg) heterozygosity, and UGT1A1 c. 1091C > T (p.pro364Leu) heterozygosity.
case_images: Sequencing results of UGT1A1 gene.
case_images: j_biol-2022-0904-fig003.jpg
case_images: PMC11211870_01_j_biol-2022-0904-fig003.jpg
case_images: j_biol-2022-0904_fig_003
case_images: Genetic disease related gene sequencing of the patient's genomic DNA using peripheral blood samples obtained at another hospital (Figures 2 and 3) showed SPTB c.3449G > A (p.Trp1150*) heterozygosity, ASXL1 c. 1275del (p.Tyr425*) suspected heterozygosity, a Chr8 duplication, UGT1A1 c. 211G > A(p.Gly71Arg) heterozygosity, and UGT1A1 c. 1091C > T (p.pro364Leu) heterozygosity.