Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 16, 2023; 11(29): 7200-7206
Published online Oct 16, 2023. doi: 10.12998/wjcc.v11.i29.7200
Hematopoietic stem cell transplantation of aplastic anemia by relative with mutations and normal telomere length: A case report
Jin Yan, Ting Jin, Li Wang
Jin Yan, School of Medicine, Jianghan University, Wuhan 430056, Hubei Province, China
Jin Yan, Ting Jin, Li Wang, Department of Hematology, The Central Hospital of Wuhan, Wuhan 430014, Hubei Province, China
Author contributions: Wang L revised the manuscript; Yan J and Jin T participated equally in drafting this manuscript; All the authors have read the manuscript and approved the final version for publication.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: Li Wang, MA, Associate Chief Physician, Department of Hematology, The Central Hospital of Wuhan, No. 26 Shengli Street, Jiang’an District, Wuhan 430014, Hubei Province, China. wlmarx96@163.com
Received: August 6, 2023
Peer-review started: August 6, 2023
First decision: August 30, 2023
Revised: September 9, 2023
Accepted: September 26, 2023
Article in press: September 26, 2023
Published online: October 16, 2023
Processing time: 68 Days and 0.5 Hours
Abstract
BACKGROUND

Immunosuppressive therapy and matched sibling donor hematopoietic stem cell transplantation (MSD-HSCT) are the preferred treatments for aplastic anemia (AA).

CASE SUMMARY

In this report, we describe a 43-year-old male patient with severe AA who carried BRIP1 (also known as FANCJ), TINF2, and TCIRG1 mutations. Screening of the family pedigree revealed the same TINF2 mutation in his mother and older brother, with his older brother also carrying the BRIP1 variant and demonstrating normal telomere length and hematopoietic function. The patient was successfully treated with oral cyclosporine A, eltrombopag, and acetylcysteine, achieving remission 4 years after receiving MSD-HSCT from his older brother.

CONCLUSION

This case provides a valuable clinical reference for individuals with suspected pathogenic gene mutations, normal telomere length, and hematopoietic function, highlighting them as potential donors for patients with AA.

Keywords: Aplastic anemia; Hematopoietic stem cell transplantation; BRIP1 gene; TINF2 gene; Telomere length; Case report

Core Tip: Aplastic anemia (AA) is a bone marrow failure syndrome. In this report, we present a case of an adult patient with severe AA who was successfully treated with matched sibling donor hematopoietic stem cell transplantation from his older brother. Despite his brother carrying BRIP1 and TINF2 mutations, his telomere length and hematopoietic function remained normal. The patient achieved and maintained remission for more than four years after transplantation. This case provides a clinical reference for individuals with suspected pathogenic gene mutations and normal telomere length and hematopoietic function, as potential donors for patients with AA.