Co-inheritance of β- and δ-thalassemia compromising prenatal screening in a Chinese couple seeking prevention.

Abstract:

:Although δ-globin gene mutations have no clinical implications, association of β- and δ-thalassemia may lead to misdiagnosis. We describe the case of a Chinese woman who was assumed to have an α-thalassemia heterozygote, but was later shown to have β-thalassemia with a normal amount of HbA(2) caused by the -77 mutation of the δ-globin gene. This study highlights the importance of considering δ-thalassemia during β-thalassemia screening to avoid false-negative results in the detection of at-risk couples.

journal_name

Fetal Diagn Ther

authors

Li J,Xie XM,Zhou JY,Li DZ

doi

10.1159/000321046

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

73-6

issue

1

eissn

1015-3837

issn

1421-9964

pii

000321046

journal_volume

30

pub_type

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