PMC9748711_01
Morphological analysis of erythrocytes. Spherocytes (arrows) are visible in the patient's peripheral blood smear (Wright's stain; x1,000 magnification).
etm-25-01-11704-g00.jpg
PMC9748711_01_etm-25-01-11704-g00.jpg
f1-ETM-25-1-11704
Southwest Medical University. Spherocytes were found in the peripheral blood smears (Fig. 1).
MRI scans of the proband patient. (A) MRI scan of the patient revealing an enlarged spleen. (B) T2 MRI scan and (C) selective partial inversion recovery sequences revealing reduced signal intensity in the spleen, suggesting iron deposition. MRI, magnetic resonance imaging.
etm-25-01-11704-g01.jpg
PMC9748711_01_etm-25-01-11704-g01.jpg
f2-ETM-25-1-11704
Abdominal magnetic resonance imaging (MRI) of the patient (Fig. 2) and father revealed splenomegaly and iron deposition in the spleen.
Genetic pedigree map. (A) A dominant inheritance mode is noted in all three family generations (I, II and III) with similar clinical signs. (B) ANK1 gene sequencing results showing the c.4707G>A mutation (G at position 4707 of the ANK1 gene is replaced by A). ANK1, ankyrin 1.
etm-25-01-11704-g02.jpg
PMC9748711_01_etm-25-01-11704-g02.jpg
f3-ETM-25-1-11704
The genetic pedigree map and sequencing results for the analysed family members are shown in Fig. 3. The heterozygous mutation was verified by Sanger sequencing at Guangzhou KingMed Diagnostics Group Co., Ltd. (Fig. 3), which showed an overlap of signals for G/A and C/T at position 4707 of the ANK1 gene in the chromatograms of the forward and reverse sequencing results, respectively.