title: Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C).
abstract: Hb Constant Spring (Hb CS, HBA2: c.427T > C) is a common nondeletional α-thalassemia (α-thal) that results from a nucleotide substitution at the termination codon of the α2-globin gene. Homozygosity for Hb CS (α(CS)α/α(CS)α) is relatively rare, and generally characterized with mild hemolytic anemia, jaundice, and splenomegaly. In this report we present a fetus with cardiomegaly, pericardial effusion, enlarged placenta and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 24 weeks' gestation. Fetal blood sampling revealed the severe anemia [hemoglobin (Hb) level being 4.8 g/dL] and Hb H (β4) disease-like hematological findings with Hb Bart's (γ4) level of 17.9%. DNA sequencing of the α-globin genes found that both partners were Hb CS carriers and the fetus was an Hb CS homozygote. Therefore, this was a rare case of homozygous Hb CS which demonstrated an unusual and serious anemia and hydrops fetalis in utero.
authors.affiliation: a Prenatal Diagnostic Center, Dongguan Maternal & Children Health Hospital , Dongguan, Guangdong , People's Republic of China and.
authors.forename: Yi
authors.initials: Y
authors.lastname: He
authors.affiliation: a Prenatal Diagnostic Center, Dongguan Maternal & Children Health Hospital , Dongguan, Guangdong , People's Republic of China and.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: a Prenatal Diagnostic Center, Dongguan Maternal & Children Health Hospital , Dongguan, Guangdong , People's Republic of China and.
authors.forename: Ji-Wu
authors.initials: JW
authors.lastname: Lou
authors.affiliation: a Prenatal Diagnostic Center, Dongguan Maternal & Children Health Hospital , Dongguan, Guangdong , People's Republic of China and.
authors.forename: Yan-Hui
authors.initials: YH
authors.lastname: Liu
authors.affiliation: b Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China.
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D000483:Alleles; D000740:Anemia / Q000175:diagnosis / Q000235:genetics*; D004909:Erythrocyte Indices; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D017422:Sequence Analysis, DNA; D016216:Ultrasonography, Prenatal; D055542:alpha-Globins / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C035541:Hemoglobin Constant Spring
keywords: Hb Constant Spring (Hb CS); fetal anemia; homozygosity; hydrops fetalis; α-Thalassemia (α-thal)