TY - JOUR AB - 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. AD - 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 AU - Zhu,Xiaoning AU - Peng,Mengyun AU - Yin,Yue AU - Zhang,Yurong AU - Zheng,Ding AU - Peng,Zhaoxuan AU - Cheng,Jun AU - Yang,Song AU - Wang,Jing DA - 2023/01/01 DO - 10.3892/etm.2022.11704 IS - 1 JO - Exp Ther Med KW - hereditary spherocytosis ankyrin 1 whole‑exome sequencing anemia splenomegaly PY - 2023 SN - 1792-0981 1792-1015 SP - 4 ST - Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report T2 - Experimental and Therapeutic Medicine TI - Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report UR - https://doi.org/10.3892/etm.2022.11704 VL - 25 ER -