Work

[Analysis of clinical, gene mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis in the Chinese population].

Year: 2024

Type: other

Abstract: The HJV gene may be one of the main pathogenic genes of HH in China. The p.Q6H and p.C321X mutations were one of the hotspot mutations. The onset age of HJV gene-related HH was between 20 and 30 years old, and their condition was severe. Therefore, early bloodletting treatment can have a favorable outcome.

Source: PubMed

DOI: 10.3760/cma.j.cn501113-20231207-00271

Authors: W Zhang, Y M Li, A J Xu, X M Wang, Y Wang, W J Duan, X Y Zhao, H X Xu, J P Jiang, W Jiang, J Huang, X J Ou

Institutions: Capital Medical University, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Anhui Medical University, Hefei First People's Hospital, Sheng Jing Hospital, China Medical University, Fudan University, Zhongshan Hospital

Language: English

Topic: Iron Metabolism and Disorders

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Natural Science Foundation of China, Digestive Medical Coordinated Development Center of Beijing Hospitals Authority

Awards: G4432173926, G6547537748

OpenAlex ID: W4405028631

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