Prenatal Diagnosis of A Case of SEA-HPFH Deletion Combined with Beta-Thalassemia in A Chinese Family.

Author: Mei-Huan CHEN ¹ ; Hai-Long HUANG ¹ ; Yan WANG ¹ ; Min ZHANG ¹ ; Na LIN ¹ ; De-Qin HE ¹ ; Yuan LIN ¹ ; Liang-Pu XU ²
Author Information

1. Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou 350001, Fujian Province, China.
2. Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou 350001, Fujian Province, China. E-mail:ipxiu304@126.com.
Publication Type:Journal Article
From: Journal of Experimental Hematology 2017;25(4):1142-1146
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo investigate the prenatal diagnosis of a case of SEA-HPFH deletion combined with beta-thalassemia in a Chinese family.
METHODSGap-PCR and RDB methods were applied to test the genotype for the family.
RESULTSMother showed a SEA-HPFH thalasemia trait phenotype, while her genotype was heterozygote for SEA-HPFH deletion; father showed a beta-thalassemia trait phenotype, while his genotype was heterozygote for IVS-II-654 mutation; the genotype of fetus was normal in these tests.
CONCLUSIONRegular thalassemia genes and deletion beta-thalassemia genes can be used in prenatal diagnosis of the case at risk for compound heterozygotes of SEA-HPFH deletion and beta-thalassemia.