Research Progress on Pathogenesis of Congenital Pure Red Cell Aplasia---Review.
10.19746/j.cnki.issn.1009-2137.2021.05.045
- Author:
Wen-Ya LIU
1
;
Hua-Quan WANG
1
;
Zong-Hong SHAO
2
Author Information
1. Department of Hematology, Tianjin Medical University General Hospital, Tianjin 300052, China.
2. Department of Hematology, Tianjin Medical University General Hospital, Tianjin 300052, China E-mail: shaozonghong@sina.com.
- Publication Type:Review
- MeSH:
Anemia, Diamond-Blackfan;
Humans;
Mutation;
Ribosomes
- From:
Journal of Experimental Hematology
2021;29(5):1654-1657
- CountryChina
- Language:Chinese
-
Abstract:
Congenital pure red cell aplasia, also known as Diamond-Blackfan anemia (DBA), is a hereditary disease characterized by pure red cell aplasia and congenital malformation. Its main clinical features are anemia, dysplasia, and tumor susceptibility. Ribosomal protein (RP) gene mutation is the main pathogenesis of DBA. The most common type of gene mutation is RPS19 gene mutation. Heterozygous mutations in as many as 19 RP genes and other non-RP genes mutations have been identified in DBA. This review summarized briedfly the latest research advances in the pathogenesis of DBA.
