Progress in molecular diagnosis of Diamond-Blackfan anemia
10.3760/cma.j.issn.1673-4408.2022.05.007
- VernacularTitle:先天性纯红细胞再生障碍性贫血分子诊断研究进展
- Author:
Zhongping HUANG
1
;
Hongsheng WANG
Author Information
1. 福建医科大学附属福州市第一医院儿科 福州市新生儿重点科室 350009
- Keywords:
Diamond-Blackfan anemia;
Ribosomal disease;
Gene mutation;
Diagnosis
- From:
International Journal of Pediatrics
2022;49(5):315-319
- CountryChina
- Language:Chinese
-
Abstract:
Diamond-Blackfan anemia(DBA)is a rare hereditary anemia.About 90% of them have symptoms in infancy, and about 50% are complicated with congenital malformations.Genetic abnormalities were found in 70% to 80% of DBA cases, mainly autosomal dominant inheritance, and a few were recessive or X-linked inheritance.The main gene mutations of DBA are ribosomal protein gene mutations and deletions.More than 20 mutation genes related to DBA have been found in the ribosomal protein(RP)gene encoding ribosome, of which RPS19 gene mutation is the most common.In addition, there are TSR2 genes related to ribosome function and non-RP genes related to DBA like phenotype, such as GATA1, EPO and ADA2 genes.These genes play a key role in the differentiation and proliferation of erythroid cells.Molecular diagnosis is an important criterion to diagnose and distinguish classical DBA from non-classical DBA.This review summarizes the latest research progress in the genetics, gene mutation and molecular diagnosis of DBA.
