Variant analysis for patients from Fujian area with Hong Kong αα type thalassemia.
10.3760/cma.j.issn.1003-9406.2019.04.002
- VernacularTitle:福建人群香港型地中海贫血的基因变异检测
- Author:
Min ZHANG
1
;
Hailong HUANG
;
Meihuan CHEN
;
Lingji CHEN
;
Yan WANG
;
Na LIN
;
Ying LI
;
Xuemei CHEN
;
Linshuo WANG
;
Yuan LIN
;
Liangpu XU
Author Information
1. Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect Research, Fuzhou, Fujian 350001, China. Email: ipxiu304@126.com.
- Publication Type:Journal Article
- MeSH:
Genotype;
Heterozygote;
Hong Kong;
Humans;
alpha-Thalassemia;
beta-Thalassemia
- From:
Chinese Journal of Medical Genetics
2019;36(4):297-300
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the frequency of Hong Kong αα (HK αα) gene in α3.7 positive samples among carriers from Fujian area.
METHODS:Routine genetic testing for thalassemia was carried out for 10145 patients with positive screening results. Single PCR and two-round nested PCR were utilized to detect HK αα among 507 patients with α3.7/αα and 2 patients for whom electrophoresis showed α3.7, -αSEA and normal α2 alleles. Reverse dot blot test was used for detecting non-deletional α-thalassemia and β-thalassemia variants.
RESULTS:Among the 507 patients with α3.7/αα, HK αα was identified in 35 cases, which included 25 HK αα/αα, 5 HK αα/α3.7, 4 HK αα/αα with heterozygous CD41/42 (HBB: c.126_129delCTTT) variant, 1 HK αα/αα with IVS-II-654 (HBB: c.316_197C>T) heterozygous variant. One patient was confirmed to have α3.7/anti4.2 genotype. The two cases with α3.7, -αSEA and normal α2 alleles were confirmed to be HK αα/--SEA. The frequency of HK αα genotype in Fujian area was therefore 7.27% among patients with α3.7 and 0.36% in the general population.
CONCLUSION:A certain proportion of HK αα has been detected in Fujian area, which will enable more accurate diagnosis and genetic counseling.
