当前位置： SCI文献检索 > Taiwanese Journal of Obstetrics & Gynecology期刊下所有文献 > Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion.

Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion.

Abstract：

OBJECTIVE:The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed prenatal diagnosis to be performed in a subsequent pregnancy in the family. CASE REPORT:The father showed a SEA-HPFH thalassemia trait phenotype, while his genotype revealed that he was heterozygous for the SEA-HPFH deletion; The mother genotype was heterozygote for IVS-II-654 mutation; the second child had co-inherited both parental mutations and was, thus, a compound heterozygote for β-thalassemia (IVS-II-654)/SEA-HPFH deletion. His phenotype was intermediate β-thalassemia. Prenatal genotyping of a fetal sample during the third pregnancy confirmed the fetus was only heterozygote for SEA-HPFH deletion and the parents elected to continue the pregnancy. CONCLUSION:We described the clinical and molecular characterization of the first detected case of compound β-Thalassemia/SEA-HPFH deletion in Northern Vietnam. The report also highlighted the accuracy and necessity of mutation screening for families with thalassemia to inform accurate genetic counseling and targeted prenatal diagnosis when desired.

journal_name

Taiwan J Obstet Gynecol

journal_title

Taiwanese journal of obstetrics & gynecology

authors

Ly Thi Thanh H,Le Thi Thanh H,Hoang Luong L,Huy Tran T,Liu SC,Truong HN,Ta TV,Bui TH,Tran VK

doi

10.1016/j.tjog.2018.04.019

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

435-441

issue

3

eissn

1028-4559

issn

1875-6263

pii

S1028-4559(18)30085-8

journal_volume

57

pub_type

杂志文章

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