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

Although δ-globin gene mutations have no clinical implications, association of ß- 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 ß-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 ß-thalassemia screening to avoid false-negative results in the detection of at-risk couples.