Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2019; 7(20): 3303-3309
Published online Oct 26, 2019. doi: 10.12998/wjcc.v7.i20.3303
Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin–Johnson syndrome in a Chinese gril: A case report
Yuan Li, Yang Li, Yang Yang, Wen-Rui Yang, Jian-Ping Li, Guang-Xin Peng, Lin Song, Hui-Hui Fan, Lei Ye, You-Zhen Xiong, Zhi-Jie Wu, Kang Zhou, Xin Zhao, Li-Ping Jing, Feng-Kui Zhang, Li Zhang
Yuan Li, Yang Li, Yang Yang, Wen-Rui Yang, Jian-Ping Li, Guang-Xin Peng, Lin Song, Hui-Hui Fan, Lei Ye, You-Zhen Xiong, Zhi-Jie Wu, Kang Zhou, Xin Zhao, Li-Ping Jing, Feng-Kui Zhang, Li Zhang, Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China
Author contributions: Li Y designed and wrote the report; Zhang L and Zhang FK reviewed the manuscript for its intellectual content and revised the entire work; Li Y, Yang Y, and Li JP performed the histological assessments and evaluations; Yang WR, Ye L, and Xiong YZ performed the imaging assessments and evaluations; Zhao X, Wu ZJ, and Zhou K analysed the NGS data and made evalutations; Peng GX, Fan HH, and Song L performed the hemolytic test and flow cytometry analysis; Jing LP reviewed the manuscript for its intellectual content; all authors have read and approved the final manuscript.
Supported by the National Science and Technology Important and Special Project of China, No. 2017ZX09304024.
Informed consent statement: The patient involved in this study gave written informed consent authorizing the use and disclosure of his protected health information. The study protocol was approved without restrictions by the Medical Ethics Committee of Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC.
Conflict-of-interest statement: The authors have no conflicts of interest to disclose.
CARE Checklist (2016) statement: The manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: 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/
Corresponding author: Li Zhang, MD, Professor, Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China. zhangli@ihcams.ac.cn
Telephone: +86-22-23909223 Fax: +86-22-23909014
Received: April 19, 2019
Peer-review started: April 22, 2019
First decision: August 1, 2019
Revised: August 21, 2019
Accepted: September 9, 2019
Article in press: September 9, 2019
Published online: October 26, 2019
Abstract
BACKGROUND

Hereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin–Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. We recently diagnosed and treated a case of co-occurring HS and DJS.

CASE SUMMARY

A 21-year-old female patient presented to our department because of severe jaundice, severe splenomegaly, and mild anemia since birth. We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing (NGS). The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin.

CONCLUSION

The routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.

Keywords: Hereditary spherocytosis, Dubin–Johnson syndrome, Hemolytic anemia, Jaundice, Next generation sequencing, ABCC2, SPTB, Case report

Core tip: A rare case of co-occurring Dubin–Johnson syndrome and hereditary spherocytosis, which presented exceptionally severe jaundice, was diagnosed by next generation sequencing.