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首页> 外文期刊>Journal of International Medical Research >Severe fetal anemia and hydrops fetalis associated with compound heterozygosity for Hb Zurich-Albisrieden ( HBA2:c.178G&C) and Hb Quong Sze ( HBA2:c.377T&C)
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Severe fetal anemia and hydrops fetalis associated with compound heterozygosity for Hb Zurich-Albisrieden ( HBA2:c.178G&C) and Hb Quong Sze ( HBA2:c.377T&C)

机译：与Hb苏里西 - albisrieden的复方杂合子相关的严重胎儿贫血和水多萜（<斜斜=“是”> HBA2 ：C.178G＆amp; c）和Hb quong sze（<斜斜度=“是” > HBA2 ：C.377T＆amp; c）

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We report on a fetus with cardiomegaly and increased middle cerebral artery-peak systolic velocity at 25 weeks of gestation. Severe fetal anemia (hemoglobin (Hb) level 37 g/L) was confirmed by cordocentesis. Hb analysis showed that Hb Bart’s was 9% in cord blood. Molecular analysis of the proband’s family found that the mother was a carrier of Hb Quong Sze (Hb QS, HBA2 :c.377T&C), the father was a carrier of Hb Zurich-Albisrieden (Hb ZA, HBA2 :c.178G&C), and the fetus was a compound heterozygote for Hb ZA and Hb QA. Despite intrauterine blood transfusions, the fetus experienced problems including oligohydramnios, growth retardation, placental thickening, and heart enlargement in the third trimester. The couple chose to terminate the pregnancy, and fetal autopsy confirmed the above diagnosis. This is the first report of a case of Hb ZA compounded with Hb QS, and provides a reference for genetic counselling and prenatal diagnosis in the Chinese population.
机译：我们在妊娠25周内报告患有心肌肿大的胎儿，增加中脑动脉峰值收缩速度。 通过肠腔穿孔术证实了严重的胎儿贫血（血红蛋白（HB）水平37 g / L）。 HB分析表明，HB Bart在脐带血中为9％。 父亲是Hb Quging（HB Qs，HBA2：C.377T＆amp; GT; C）的母亲是母亲是母亲的载体。 178g＆amp; c），胎儿是Hb za和hb qa的化合物杂合子。 尽管宫内输血，但胎儿经历了第三个三个月的寡酒醇，生长迟缓，胎盘增厚和心脏增大的问题。 这对夫妇选择终止怀孕，胎儿尸检证实了上述诊断。 这是第一个用HB QS复合HB ZA的情况的第一个报告，并为中国人口中的遗传咨询和产前诊断提供了参考。

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