Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1784657927664041984 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8875510 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT yangxueliang hereditaryspherocytosiswithlivertransplantationaftercirrhosisacasereport AT wangwen hereditaryspherocytosiswithlivertransplantationaftercirrhosisacasereport AT fanwanhu hereditaryspherocytosiswithlivertransplantationaftercirrhosisacasereport AT cailin hereditaryspherocytosiswithlivertransplantationaftercirrhosisacasereport AT yefeng hereditaryspherocytosiswithlivertransplantationaftercirrhosisacasereport AT linshumei hereditaryspherocytosiswithlivertransplantationaftercirrhosisacasereport AT liuxiaojing hereditaryspherocytosiswithlivertransplantationaftercirrhosisacasereport |