Li Y, Li Y, Yang Y, Yang WR, Li JP, Peng GX, Song L, Fan HH, Ye L, Xiong YZ, Wu ZJ, Zhou K, Zhao X, Jing LP, Zhang FK, Zhang L. Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin–Johnson syndrome in a Chinese gril: A case report. World J Clin Cases 2019; 7(20): 3303-3309 [PMID: 31667183 DOI: 10.12998/wjcc.v7.i20.3303]
Corresponding Author of This Article
Li Zhang, MD, Professor, Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China. zhangli@ihcams.ac.cn
Research Domain of This Article
Medicine, Research & Experimental
Article-Type of This Article
Case Report
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Li Y, Li Y, Yang Y, Yang WR, Li JP, Peng GX, Song L, Fan HH, Ye L, Xiong YZ, Wu ZJ, Zhou K, Zhao X, Jing LP, Zhang FK, Zhang L. Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin–Johnson syndrome in a Chinese gril: A case report. World J Clin Cases 2019; 7(20): 3303-3309 [PMID: 31667183 DOI: 10.12998/wjcc.v7.i20.3303]
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, Li Zhang, Feng-Kui Zhang, Li-Ping Jing, Xin Zhao, Kang Zhou, Zhi-Jie Wu, You-Zhen Xiong, Lei Ye, Hui-Hui Fan, Lin Song, Guang-Xin Peng
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 bythe 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).
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 Processing time: 190 Days and 19.1 Hours
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.
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.
