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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):297-300. doi: 10.3760/cma.j.issn.1003-9406.2019.04.002.

[Variant analysis for patients from Fujian area with Hong Kong αα type thalassemia].

[Article in Chinese]

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.

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.

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