Diagnosis and clinical phenotype analysis of a case with large fragment homozygous deletion of rare β gene cluster.
10.3760/cma.j.cn511374-20191121-00599
- VernacularTitle:罕见型β基因簇大片段纯合缺失病例的诊断及临床表型分析
- Author:
Zeyan ZHONG
1
;
Jianhong CHEN
;
Dina CHEN
;
Hailin HE
;
Guoxing ZHONG
;
Zhiyang GUAN
;
Kunxiang YANG
Author Information
1. Prenatal Diagnosis Center, Huizhou First Women and Children's Hospital, Huizhou, Guangdong 516007, China. 1296275774@qq.com.
- Publication Type:Journal Article
- MeSH:
Gene Deletion;
Homozygote;
Humans;
Multigene Family/genetics*;
Phenotype;
beta-Thalassemia/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1331-1335
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on a case with homozygous deletion of large β gene cluster and its clinical characteristics.
METHODS:A total of 71 001 peripheral blood samples were subjected to capillary electrophoresis and conventional testing for common thalassemia mutations. The genotypes of suspected β gene cluster deletions were analyzed by Gap-PCR and multiplex ligation-dependent probe amplification (MLPA). Their hematological characteristics were compared by statistical analysis R software.
RESULTS:Eighty-nine cases were detected with Chinese
CONCLUSION:The carrier rate for large fragment deletions of β gene cluster in Huizhou region is rather high, for which the value of HbF is significantly increased. Attention should be paid to screening and diagnosis of rare genotype to prevent missed diagnosis and/or misdiagnosis.
