Open Access

Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report

  • Authors:
    • Xiaoning Zhu
    • Mengyun Peng
    • Yue Yin
    • Yurong Zhang
    • Ding Zheng
    • Zhaoxuan Peng
    • Jun Cheng
    • Song Yang
    • Jing Wang
  • View Affiliations

  • Published online on: November 16, 2022     https://doi.org/10.3892/etm.2022.11704
  • Article Number: 4
  • Copyright: © Zhu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

The present study describes the clinical profile and ankyrin 1 (ANK1) mutation status of a Chinese family with hereditary spherocytosis (HS). A young male patient (proband) was diagnosed with HS after presenting with anaemia and jaundice. The Coombs test was negative and spherocytes were found in peripheral blood smears. Magnetic resonance imaging showed splenomegaly and splenic iron depositions. The red blood cell osmotic fragility test was positive. The eosin‑5'‑maleimide binding test showed reduced mean channel fluorescence. Whole‑exome sequencing revealed a novel ANK1 mutation (c.4707G>A), resulting in a nonsense mutation (p.Trp1569*). The patient's father, paternal aunt and paternal grandmother exhibited comparable clinical symptoms and Sanger sequencing confirmed the same mutation in these family members. To the best of our knowledge, an HS pedigree with this novel ANK1 nonsense mutation has not been previously reported. At the same time, the unique clinical presentation of this pedigree helps our understanding of the heterogeneity of clinical manifestations of HS.
View Figures
View References

Related Articles

Journal Cover

January-2023
Volume 25 Issue 1

Print ISSN: 1792-0981
Online ISSN:1792-1015

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Zhu X, Peng M, Yin Y, Zhang Y, Zheng D, Peng Z, Cheng J, Yang S and Wang J: Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report. Exp Ther Med 25: 4, 2023
APA
Zhu, X., Peng, M., Yin, Y., Zhang, Y., Zheng, D., Peng, Z. ... Wang, J. (2023). Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report. Experimental and Therapeutic Medicine, 25, 4. https://doi.org/10.3892/etm.2022.11704
MLA
Zhu, X., Peng, M., Yin, Y., Zhang, Y., Zheng, D., Peng, Z., Cheng, J., Yang, S., Wang, J."Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report". Experimental and Therapeutic Medicine 25.1 (2023): 4.
Chicago
Zhu, X., Peng, M., Yin, Y., Zhang, Y., Zheng, D., Peng, Z., Cheng, J., Yang, S., Wang, J."Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report". Experimental and Therapeutic Medicine 25, no. 1 (2023): 4. https://doi.org/10.3892/etm.2022.11704