pubmed.ncbi.nlm.nih.gov

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

  • ️Sat Jan 01 2022

Case Reports

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

Xiaoning Zhu et al. Exp Ther Med. 2022.

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.

Keywords: anemia; ankyrin 1; hereditary spherocytosis; splenomegaly; whole-exome sequencing.

Copyright: © Zhu et al.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1

Morphological analysis of erythrocytes. Spherocytes (arrows) are visible in the patient's peripheral blood smear (Wright's stain; x1,000 magnification).

Figure 2
Figure 2

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.

Figure 3
Figure 3

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.

Similar articles

Cited by

References

    1. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411–1426. doi: 10.1016/S0140-6736(08)61588-3. - DOI - PubMed
    1. Zamora EA, Schaefer CA. Hereditary spherocytosis. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island, FL, 2022. - PubMed
    1. King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A. ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. 2015;37:304–325. doi: 10.1111/ijlh.12335. International Council for Standardization in Haematology. - DOI - PubMed
    1. Shim YJ, Jung HL, Shin HY, Kang HJ, Choi JY, Hah JO, Lee JM, Lim YT, Yang EJ, Baek HJ, et al. Epidemiological study of hereditary hemolytic anemia in the Korean pediatric population during 1997-2016: A nationwide retrospective cohort study. J Korean Med Sci. 2020;35(e279) doi: 10.3346/jkms.2020.35.e279. - DOI - PMC - PubMed
    1. Yawata Y, Kanzaki A, Yawata A, Doerfler W, Ozcan R, Eber SW. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol. 2000;71:118–135. - PubMed

Publication types

Grants and funding

Funding:

The whole-exome and Sanger sequencing analysis were supported by funding from the National Traditional Chinese Medicine Clinical Research Base Construction Unit of The Affiliated Traditional Chinese Medicine Hospital of Southwest Medical University [grant no. (2020) 33], the Luzhou ‘Jiucheng Talents-Scientific and Technological Innovation Team’ [grant no. (2021) 162] and the Scientific Research Team Cultivation Project of the Affiliated Traditional Chinese Medicine Hospital of Southwest Medical University [grant no. (2022) 68, 2022-CXTD-04].