Wufuer G, Wufuer K, Ba T, Cui T, Tao L, Fu L, Mao M, Duan MH. Primary myelofibrosis with thrombophilia as first symptom combined with thalassemia and Gilbert syndrome: A case report. World J Clin Cases 2022; 10(13): 4161-4170 [PMID: 35665102 DOI: 10.12998/wjcc.v10.i13.4161]
Corresponding Author of This Article
Ming-Hui Duan, MD, Doctor, Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifuyuan, Dongcheng District, Beijing 100730, China. mhduan@sina.com
Research Domain of This Article
Hematology
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. May 6, 2022; 10(13): 4161-4170 Published online May 6, 2022. doi: 10.12998/wjcc.v10.i13.4161
Primary myelofibrosis with thrombophilia as first symptom combined with thalassemia and Gilbert syndrome: A case report
Guzailinuer Wufuer, Kaisaer Wufuer, Tu Ba, Tao Cui, Ling Tao, Ling Fu, Ming Mao, Ming-Hui Duan
Guzailinuer Wufuer, Ling Tao, Ling Fu, Ming Mao, Department of Hematology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, Xinjiang Uygur Autonomous Region, China
Kaisaer Wufuer, Department of Thoracic Surgery, The Eighth Affiliated Hospital of Xinjiang Medical University, Urumqi 830001, Xinjiang Uygur Autonomous Region, China
Tu Ba, Department of Pathology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, Xinjiang Uygur Autonomous Region, China
Tao Cui, Department of Radiology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, Xinjiang Uygur Autonomous Region, China
Ming-Hui Duan, Department of Hematology, Peking Union Medical College Hospital, Beijing 100730, China
Author contributions: Wufuer G, Wufuer K, Ba T, Cui T, and Tao L contributed equally to this work; Fu L and Mao M designed the research study; Duan MH analyzed the data and wrote the manuscript; all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: Wufuer G has received fees for serving as a speaker, an Associate Chief Physician at People's Hospital of Xinjiang Uygur Autonomous Region; Duan MH has received research funding from Peking Union Medical College Hospital.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ming-Hui Duan, MD, Doctor, Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifuyuan, Dongcheng District, Beijing 100730, China. mhduan@sina.com
Received: August 11, 2021 Peer-review started: August 11, 2021 First decision: September 2, 2021 Revised: September 17, 2021 Accepted: March 14, 2022 Article in press: March 14, 2022 Published online: May 6, 2022 Processing time: 262 Days and 0 Hours
Core Tip
Core Tip: Thrombophilia is genetic or acquired defect, or there are acquired risk factors and a high thromboembolic tendency. Hereditary antithrombin (AT) deficiency is a genetic defect caused by a mutation in the AT coding gene SERPINCI1, which is one of the major risk factors for hereditary thrombophilia. We report a case of thrombotic disorder with hereditary AT deficiency, in which genetic tests revealed a heterozygous SERPINC1 mutation, and a JAK2V617-positive myeloproliferative neoplasm was a potential acquisition factor for venous thrombosis. At the same time, this patient was genetically confirmed to have both UGT1A1 and β-thalassemia gene mutations. In clinical work, under the premise of clear thrombophilia, comprehensive screening of relevant occult factors is necessary.
