title: Early onset of fetal hydrops associated with the α-thalassemia - -(THAI) deletion.
abstract: α-Thalassemia (α-thal) is common in southern China. Homozygosity for the - -(SEA) (Southeast Asian) α-globin gene deletion is the most common cause of the Hb Bart's (γ4) disease. Occasionally, other α(0)-thal deletions can also be found. In this study, we report a case with an atypical form of Hb Bart's disease. The fetus was a compound heterozygote for the - -(SEA) and - -(THAI) deletions and presented different clinical features from that of traditional Hb Bart's disease with the - -(SEA) deletion in the homozygous state. The early onset of fetal hydrops is attributed to the decreased formation of embryonic Hb Portland (ζ2γ2), which is proposed as a candidate for reactivation in cases of severe α-thal. Our finding may have potentially important implications for clinical decisions in a program using ultrasonography to identify signs of homozygous α(0)-thal.
authors.affiliation: Department of Obstetrics and Gynecology, Guangzhou Women & Children Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China and.
authors.forename: Yu
authors.initials: Y
authors.lastname: Yang
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D005260:Female; D017353:Gene Deletion; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C030447:hemoglobin Portland
keywords: Hb Bart’s (γ4) disease; fetal anemia; ultrasound; α-Thalassemia (α-thal); – –SEA deletion; – –THAI deletion