The Possible Non-Mutational Causes of FVIII Deficiency: Non-Coding RNAs and Acquired Hemophilia A

Frontiers in Medicine

Daniel Coriu¹  Melen Brinza¹  Sabina Iluta²  Delia Dima²  Ionut Hotea³  Catalin Constantinescu⁴  Cristina Blag⁵  Margit Serban⁶  Noemi Dirzu⁷  Laetitia Muller-Mohnssen⁷  Elisabeth-Antonia Marchis-Hund⁷  Atamyrat Bashimov⁷  Alexandra Coudsy⁷  Diana Gulei⁷  Alina-Andreea Zimta⁷  Ciprian Tomuleasa⁸ 

[1] Department of Hematology, Fundeni Clinical Institute, Bucharest, Romania;Department of Hematology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania;Department of Hematology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania;Department of Hematology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania;Department of Hematology, Ion Chiricuta Clinical Cancer Center, Cluj Napoca, Romania;Department of Hematology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania;Intensive Care Unit, Clinical Hospital for Infectious Diseases, Cluj Napoca, Romania;Department of Pediatrics, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania;Department of Hematology, Emergency Clinical Children's Hospital, Cluj Napoca, Romania;Louis Turcanu Emergency Children's Hospital, Timisoara, Romania;European Hemophilia Treatment Center, Timisoara, Romania;Department of Pediatrics, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania;Medfuture Research Center for Advanced Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania;Medfuture Research Center for Advanced Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania;Department of Hematology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania;Department of Hematology, Ion Chiricuta Clinical Cancer Center, Cluj Napoca, Romania;

关键词: hemophilia;    non-coding RNAs;    epigenetics;    hypothesis;    acquired bleeding disorder;   

DOI  :  10.3389/fmed.2021.654197

来源: Frontiers

【 摘 要 】

Hemophilia type A (HA) is the most common type of blood coagulation disorder. While the vast majority of cases are inherited and caused by mutations in the F8 gene, recent data raises new questions regarding the non-heritability of this disease, as well as how other molecular mechanisms might lead to the development of HA or increase the severity of the disease. Some data suggest that miRNAs may affect the severity of HA, but for some patients, miRNA-based interference might cause HA, in the absence of an F8 mutation. A mechanism in HA installation that is also worth investigating and which could be identified in the future is the epigenetic silencing of the F8 gene that might be only temporarily. Acquired HA is increasingly reported and as more cases are identified, the description of the disease might become challenging, as cases without FVIII autoantibodies might be identified.

【 授权许可】

CC BY