Review
Progress in molecular diagnosis of Diamond-Blackfan anemia
Huang Zhongping, Wang Hongsheng
Published 2022-05-26
Cite as Int J Pediatr, 2022, 49(5): 315-319. DOI: 10.3760/cma.j.issn.1673-4408.2022.05.007
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.
Key words:
Diamond-Blackfan anemia; Ribosomal disease; Gene mutation; Diagnosis
Contributor Information
Huang Zhongping
Department of Pediatrics, the Affiliated Fuzhou First Hospital of Fujian Medical University, Key Neonatal Department of Fuzhou, Fuzhou 350009, China
Wang Hongsheng
Department of Hematology, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, China
