title: 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.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Xing-Mei
authors.initials: XM
authors.lastname: Xie
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D044466:Asian People; D003951:Diagnostic Errors; D005260:Female; D006443:Hemoglobin A2 / Q000378:metabolism*; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D055546:delta-Globins / Q000235:genetics*; D055538:delta-Thalassemia / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D055546:delta-Globins; D006443:Hemoglobin A2