title: Hb H Hydrops Fetalis Syndrome Caused by Association of the - -(SEA) Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family.
abstract: Hb Constant Spring (Hb CS; HBA2: c.427T > C) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the α2-globin gene. Compound heterozygosity for α(0)-thalassemia (α(0)-thal) and Hb CS (- -(SEA)/α(CS)α) results in Hb H/Hb CS disease, which is generally characterized with mild hemolytic anemia, jaundice, and splenomegaly. Here, we describe one case with Hb H/Hb CS disease that presented with fetal anemia and fetal hydrops, known as Hb H (β4) hydrops fetalis. This is the first report of fetal hydrops caused by association of the - -(SEA) deletion and the α(CS)α mutation. Our study highlights the significance of watchful observation using a serial ultrasound method and care of pregnant women who have fetuses found to carry Hb H/Hb CS disease during pregnancy, to guard against the occurrence of fetal hydrops.
authors.affiliation: Prenatal Diagnostic Centre, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Sheng
authors.initials: S
authors.lastname: He
authors.forename: Chenguang
authors.initials: C
authors.lastname: Zheng
authors.forename: Dahua
authors.initials: D
authors.lastname: Meng
authors.forename: Rongyu
authors.initials: R
authors.lastname: Chen
authors.forename: Qiang
authors.initials: Q
authors.lastname: Zhang
authors.forename: Xiaoxian
authors.initials: X
authors.lastname: Tian
authors.forename: Shaoke
authors.initials: S
authors.lastname: Chen
mesh_terms: D000328:Adult; D002681:China; D002871:Chromosome Banding; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D005838:Genotype; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D017354:Point Mutation; D011247:Pregnancy; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D006447:Hemoglobin H; C035541:Hemoglobin Constant Spring
keywords: Hb H hydrops fetalis; Hb H/Hb CS disease; α-Globin gene; α-thalassemia (α-thal)