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

Zhu,Xiaoning; Peng,Mengyun; Yin,Yue; Zhang,Yurong; Zheng,Ding; Peng,Zhaoxuan; Cheng,Jun; Yang,Song; Wang,Jing

doi:10.3892/etm.2022.11704

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
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Affiliations: Department of Hepatobiliary Disease, The Affiliated Traditional Chinese Medicine Hospital of Southwest Medical University, Luzhou, Sichuan 646000, P.R. China, Center of Liver Diseases, Beijing Ditan Hospital, Capital Medical University, Beijing 100020, P.R. China
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.

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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.

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