Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G > C) and the Southeast Asian (- -SEA/) Deletion

• Published in: Hemoglobin Vol. 40; no. 5; pp. 353 - 355
• Main Authors: Yang, Xin, Yan, Jin-Mei, Li, Jian, Xie, Xing-Mei, Zhou, Jian-Ying, Li, Yan, Li, Dong-Zhi
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 02.09.2016
• Subjects: alpha-Globins - genetics; alpha-Thalassemia - genetics; Blood Specimen Collection; Female; fetal anemia; Fetal Diseases - diagnosis; Fetal Diseases - genetics; Hb Bart's hydrops fetalis; Hb H disease; Hb Zurich-Albisrieden; Hemoglobins, Abnormal - genetics; Heterozygote; Humans; Hydrops Fetalis - diagnosis; Hydrops Fetalis - genetics; Male; Pedigree; Point Mutation; Pregnancy; Prenatal Diagnosis; Sequence Deletion; α-Thalassemia (α-thal); Hb H disease; α-Thalassemia (α-thal); fetal anemia; Hb Zurich-Albisrieden; Hb Bart’s hydrops fetalis
• ISSN: 0363-0269; 1532-432X
• DOI: 10.1080/03630269.2016.1230067

Hb Zurich-Albisrieden [HBA2: c.178G > C; α59(E8)Gly→Arg (α2)] is a rare nondeletional α-thalassemia (α-thal) that results from a nucleotide substitution at codon 59 of the α2-globin gene. In this report, we present a fetus with cardiomegaly, enlarged placenta and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 25 weeks' gestation. Fetal blood sampling revealed the severe anemia [hemoglobin (Hb) level being 5.5 g/dL] and Hb H (β4) disease-like hematological findings with Hb Bart's (γ4) level of 30.7%. Molecular analysis of the family found that the father was an Hb Zurich-Albisrieden carrier, the mother heterozygous for the - - SEA α 0 -thal deletion, and the fetus was a compound heterozygote for Hb Zurich-Albisrieden and the - - SEA α 0 -thal deletion. Therefore, this was a rare case of Hb Bart's hydrops fetalis associated with Hb Zurich Albisrieden.