[Progress in pathogenesis of bone marrow failure in Fanconi anemia]

Zhonghua Er Ke Za Zhi. 2022 May 2;60(5):490-493. doi: 10.3760/cma.j.cn112140-20211101-00917.

[Article in Chinese]

Authors

G G Zhang¹, R Zhang¹, T Y Wang¹

Affiliation

¹ Hematology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatric Hematology, National Key Discipline of Pediatrics (Capital Medical University),Key Laboratory of Major Disease in Children, Ministry of Education, Beijing 100045, China.

PMID: 35488651
DOI: 10.3760/cma.j.cn112140-20211101-00917

Abstract

范科尼贫血（FA）是一种常染色体隐性、X连锁（FANCB基因突变）和常染色体显性（RAD51基因突变）遗传病，其发病机制是FA相关基因缺陷导致DNA损伤修复功能障碍，造成染色体自发断裂、错排、畸变等，从而出现骨髓衰竭、先天性畸形及肿瘤倾向等临床表现。本文主要针对其骨髓衰竭的发病机制进行综述。.

MeSH terms

Bone Marrow Failure Disorders
Fanconi Anemia* / complications
Humans