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Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report

The clinical manifestations of hereditary spherocytosis are similar to those of various hemolytic anemias, which causes hereditary spherocytosis to be difficult to diagnose clinically. In this case, we obtained the peripheral blood of a patient and family members, and through a whole exome test of t...

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Autores principales: Yang, Xueliang, Wang, Wen, Fan, Wanhu, Cai, Lin, Ye, Feng, Lin, Shumei, Liu, Xiaojing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8875510/
https://www.ncbi.nlm.nih.gov/pubmed/35223921
http://dx.doi.org/10.3389/fmed.2022.823724
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author Yang, Xueliang
Wang, Wen
Fan, Wanhu
Cai, Lin
Ye, Feng
Lin, Shumei
Liu, Xiaojing
author_facet Yang, Xueliang
Wang, Wen
Fan, Wanhu
Cai, Lin
Ye, Feng
Lin, Shumei
Liu, Xiaojing
author_sort Yang, Xueliang
collection PubMed
description The clinical manifestations of hereditary spherocytosis are similar to those of various hemolytic anemias, which causes hereditary spherocytosis to be difficult to diagnose clinically. In this case, we obtained the peripheral blood of a patient and family members, and through a whole exome test of the 6,297 genetic phenotypes confirmed by OMIM, we found a heterozygous nonsense mutation (c.4117C>T, P.Q1373X) in the SPTB gene. Combined with the patient's clinical data, the diagnosis was hereditary spherocytosis. Compared with the public population sequence database, the mutation was found to be unique. Through protein structure prediction analysis and literature studies, we found that the mutation may cause SPTB mRNA instability, resulting in insufficient spectrin protein synthesis and affecting the integrity and flexibility of the red blood cell membrane skeleton. This case report found that SPTB gene mutations may cause liver dysfunction and cirrhosis in addition to hereditary spherocytosis, and this finding expands the phenotypic spectrum of SPTB. This study confirmed that NGS can be used to diagnose hereditary spherocytosis. Identifying mutated genes can not only accurately treat diseases, but also avoid potential genetic risks and improve prenatal and postnatal care.
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spelling pubmed-88755102022-02-26 Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report Yang, Xueliang Wang, Wen Fan, Wanhu Cai, Lin Ye, Feng Lin, Shumei Liu, Xiaojing Front Med (Lausanne) Medicine The clinical manifestations of hereditary spherocytosis are similar to those of various hemolytic anemias, which causes hereditary spherocytosis to be difficult to diagnose clinically. In this case, we obtained the peripheral blood of a patient and family members, and through a whole exome test of the 6,297 genetic phenotypes confirmed by OMIM, we found a heterozygous nonsense mutation (c.4117C>T, P.Q1373X) in the SPTB gene. Combined with the patient's clinical data, the diagnosis was hereditary spherocytosis. Compared with the public population sequence database, the mutation was found to be unique. Through protein structure prediction analysis and literature studies, we found that the mutation may cause SPTB mRNA instability, resulting in insufficient spectrin protein synthesis and affecting the integrity and flexibility of the red blood cell membrane skeleton. This case report found that SPTB gene mutations may cause liver dysfunction and cirrhosis in addition to hereditary spherocytosis, and this finding expands the phenotypic spectrum of SPTB. This study confirmed that NGS can be used to diagnose hereditary spherocytosis. Identifying mutated genes can not only accurately treat diseases, but also avoid potential genetic risks and improve prenatal and postnatal care. Frontiers Media S.A. 2022-02-11 /pmc/articles/PMC8875510/ /pubmed/35223921 http://dx.doi.org/10.3389/fmed.2022.823724 Text en Copyright © 2022 Yang, Wang, Fan, Cai, Ye, Lin and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Yang, Xueliang
Wang, Wen
Fan, Wanhu
Cai, Lin
Ye, Feng
Lin, Shumei
Liu, Xiaojing
Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report
title Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report
title_full Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report
title_fullStr Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report
title_full_unstemmed Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report
title_short Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report
title_sort hereditary spherocytosis with liver transplantation after cirrhosis: a case report
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8875510/
https://www.ncbi.nlm.nih.gov/pubmed/35223921
http://dx.doi.org/10.3389/fmed.2022.823724
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