Prenatal Diagnosis of A Case of SEA-HPFH Deletion Combined with Beta-Thalassemia in A Chinese Family.
- VernacularTitle:东南亚缺失型遗传性持续性胎儿血红蛋白增多症伴β地中海贫血一个家系的产前诊断
- 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
,
3
Author Information
- 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.
