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. (June 2015)

• Record Type: Journal Article
• Authors: He, Sheng; Zheng, Chenguang; Meng, Dahua; Chen, Rongyu; Zhang, Qiang; Tian, Xiaoxian; Chen, Shaoke
• Is Part Of: Hemoglobin. Volume 39:Number 3(2015)
• Page Start: 216
• Page End: 219
• Publication Date: 2015-06
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2015.1030031
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>Hb Constant Spring (Hb CS; <italic>HBA2</italic>: c.427T &gt; 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 α⁰-thalassemia (α⁰-thal) and Hb CS (− −^SEA/α^CSα) 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^CSα 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.</p> </abstract>