Zimta Alina-Andreea, Hotea Ionut, Brinza Melen, Blag Cristina, Iluta Sabina, Constantinescu Catalin, Bashimov Atamyrat, Marchis-Hund Elisabeth-Antonia, Coudsy Alexandra, Muller-Mohnssen Laetitia, Dirzu Noemi, Gulei Diana, Dima Delia, Serban Margit, Coriu Daniel, Tomuleasa Ciprian
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.
Front Med (Lausanne). 2021 Apr 15;8:654197. doi: 10.3389/fmed.2021.654197. eCollection 2021.
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 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 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 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.
甲型血友病（HA）是最常见的血液凝固障碍类型。虽然绝大多数病例是遗传性的，由该基因的突变引起，但最近的数据对这种疾病的非遗传性以及其他分子机制如何导致HA的发生或增加疾病的严重程度提出了新的问题。一些数据表明，微小RNA（miRNA）可能会影响HA的严重程度，但对于一些患者来说，在没有该基因突变的情况下，基于miRNA的干扰可能会导致HA。HA发生过程中一种也值得研究且未来可能会被识别的机制是该基因的表观遗传沉默，这种沉默可能只是暂时的。获得性HA的报道越来越多，随着更多病例被发现，由于可能会识别出没有FVIII自身抗体的病例，对该疾病的描述可能会变得具有挑战性。
