Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G > C) and the Southeast Asian (- -SEA/) Deletion.
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 - -SEAα0-thal deletion, and the fetus was a compound heterozygote for Hb Zurich-Albisrieden and the - -SEAα0-thal deletion. Therefore, this was a rare case of Hb Bart's hydrops fetalis associated with Hb Zurich Albisrieden.
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Xin
X
Yang
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Jin-Mei
JM
Yan
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Jian
J
Li
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Xing-Mei
XM
Xie
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Jian-Ying
JY
Zhou
b Guangzhou Cord Blood Bank, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Yan
Y
Li
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Dong-Zhi
DZ
Li
D001800:Blood Specimen Collection; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C500302:hemoglobin Zurich Albisrieden; C030448:hemoglobin Bart's
Hb Bart’s hydrops fetalis; Hb H disease; Hb Zurich-Albisrieden; fetal anemia; α-Thalassemia (α-thal)