Molecular and prenatal diagnosis for a Chinese pregnant woman with a novel mutation of β thalassemia.
- Author:
Ying HAO
1
;
Zhi-yong XU
;
Qing JIN
;
Wei-qing WU
;
Jun CAI
;
Cai-qun LUO
;
Jian-sheng XIE
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; DNA Mutational Analysis; Female; Humans; Male; Mutation; Pregnancy; Pregnancy Complications, Hematologic; genetics; Prenatal Diagnosis; beta-Thalassemia; diagnosis; genetics
- From: Chinese Journal of Hematology 2011;32(4):245-248
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo conduct molecular and prenatal diagnosis for a couple with β thalassemia.
METHODSBlood routine examination and hemoglobin analysis were used for screening of thalassemia. Seventeen common Chinese mutations of β thalassemia were detected for the carriers with β thalassemia using PCR/RDB. The unknown mutation of β thalassemia was identified by DNA sequencing and DHPLC analysis.
RESULTSThe husband was heterozygote of CD41/42 (-TCTT). The wife carried a mutation IVS-I-110 (G→A) of β thalassemia having not been reported in Chinese so far. The fetus was a double mutated heterozygote of IVS-I-110 (G→A) and CD41/42 (-TCTT). The pregnancy was terminated.
CONCLUSIONMutation IVS-I-110 (G→A) of β thalassemia in Chinese is of importance to the genetic counseling and prenatal diagnosis of thalassemia.
