Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene.
10.3760/cma.j.cn511374-20201014-00719
- VernacularTitle:一例大片段重复变异导致血友病A的分析
- Author:
Wen WANG
1
;
Dongyan CUI
;
Lijuan JIANG
;
Ai ZHANG
;
Aiguo LIU
;
Qun HU
Author Information
1. Department of Pediatric Hematology, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, Hubei 430030, China. qunhu2013@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Factor VIII/genetics*;
Gene Duplication;
Hemophilia A/genetics*;
Humans;
Introns;
Male;
Mutation;
Phenotype
- From:
Chinese Journal of Medical Genetics
2022;39(1):72-75
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on a case with severe hemophilia A (HA) due to a large duplication of F8 gene.
METHODS:Inversion detection, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutation in the proband and his mother.
RESULTS:The patient, a 7-year-old boy, was diagnosed with severe HA at 8 months. No inhibitor was developed over 150 exposure days. Intronic inversion detection and Sanger sequencing have failed to identify pathogenic variants, while MLPA revealed a large duplication [Ex 1_22 dup (2 copies)] in the proband, for which his mother was a carrier [Ex 1_22 dup (3 copies)]. Large duplications of the F8 gene have so far been found in 24 HA patients, all of whom had a severe phenotype, only one had a history of inhibitors.
CONCLUSION:Large duplications of F8 gene are associated with severe HA. The diagnostic rate for HA may be increased by MLPA.
