Jiang N, Mao WY, Peng BX, Yang TY, Mao XR. Clinical manifestations of adult hereditary spherocytosis with novel SPTB gene mutations and hyperjaundice: A case report. World J Clin Cases 2023; 11(6): 1349-1355 [PMID: 36926142 DOI: 10.12998/wjcc.v11.i6.1349]
Corresponding Author of This Article
Xiao-Rong Mao, MD, Chief Physician, Department of Infectious Diseases, The First Hospital of Lanzhou University, No. 1 Donggang West Road, Chengguan District, Lanzhou 730000, Gansu Province, China. mxr2013@126.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Feb 26, 2023; 11(6): 1349-1355 Published online Feb 26, 2023. doi: 10.12998/wjcc.v11.i6.1349
Clinical manifestations of adult hereditary spherocytosis with novel SPTB gene mutations and hyperjaundice: A case report
Ni Jiang, Wu-Yong Mao, Bing-Xue Peng, Ting-Ya Yang, Xiao-Rong Mao
Ni Jiang, Wu-Yong Mao, Bing-Xue Peng, Ting-Ya Yang, Xiao-Rong Mao, Department of Infectious Diseases, The First Hospital of Lanzhou University, Lanzhou 730000, Gansu Province, China
Author contributions: Jiang N conducted data curation and wrote the manuscript; Mao WY revised and approved the final manuscript; and all authors contributed to the article and approved the submitted version.
Supported byNatural Science Foundation of Gansu Province, No. 21JR1RA070; and Construction of Clinical Medical Research Center, No. 21JR7RA392.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xiao-Rong Mao, MD, Chief Physician, Department of Infectious Diseases, The First Hospital of Lanzhou University, No. 1 Donggang West Road, Chengguan District, Lanzhou 730000, Gansu Province, China. mxr2013@126.com
Received: October 5, 2022 Peer-review started: October 5, 2022 First decision: November 22, 2022 Revised: December 17, 2022 Accepted: January 10, 2023 Article in press: January 10, 2023 Published online: February 26, 2023 Processing time: 142 Days and 6.7 Hours
Abstract
BACKGROUND
The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis (HS), and to broaden the diagnostic thoughts of physicians for patients with jaundice.
CASE SUMMARY
A 28-year-old male presented with jaundice, bile duct stone, and splenomegaly, but without anemia. Other causes of jaundice were excluded, and gene sequencing revealed a novel heterozygous variant of c.1801C>T (p.Q601X) in exon 14 of the SPTB (NM_01355436) gene on chromosome 14 (chr14: 65260580) in the patient’s blood; the biological parents and child of the patient did not have similar variants. A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery. Thus, a novel gene variant causing HS was identified. This variant may result in the truncation of β-hemoglobin in the erythrocyte membrane, leading to loss of normal function, jaundice, and hemolytic anemia. The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease, which caused challenges for diagnosis by the clinicians.
CONCLUSION
Following a definitive diagnosis, genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.
Core Tip: A novel mutation in the SPTB gene was identified in a patient with hemolytic anemia, which caused the patient to present with extremely high jaundice without obvious hemolysis. At the same time, there was no similar mutation in the patient’s family. Because medical treatment was ineffective, we finally performed splenectomy after communicating with the patient. After splenectomy, the patient’s liver function recovered. The patient’s liver function continued to be normal during follow-up.
