He Sheng, Zheng Chenguang, Meng Dahua, Chen Rongyu, Zhang Qiang, Tian Xiaoxian, Chen Shaoke
Prenatal Diagnostic Centre, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
Hemoglobin. 2015;39(3):216-9. doi: 10.3109/03630269.2015.1030031. Epub 2015 Apr 21.
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.
血红蛋白恒春（Hb CS；HBA2：c.427T > C）是一种不稳定的血红蛋白（Hb）变异体，由α2-珠蛋白基因终止密码子处的核苷酸替换导致。α（0）-地中海贫血（α（0）-thal）与Hb CS（- -（SEA）/α（CS）α）的复合杂合性导致Hb H/Hb CS病，其通常表现为轻度溶血性贫血、黄疸和脾肿大。在此，我们描述了一例患有Hb H/Hb CS病的病例，该病例表现为胎儿贫血和胎儿水肿，即Hb H（β4）胎儿水肿综合征。这是关于由- -（SEA）缺失与α（CS）α突变关联导致胎儿水肿的首例报告。我们的研究强调了使用系列超声方法进行密切观察以及对孕期发现胎儿携带Hb H/Hb CS病的孕妇进行护理的重要性，以预防胎儿水肿的发生。
