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首页> 外文期刊>American journal of medical genetics, Part A >A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings
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A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings

机译：两种兄弟姐妹的新型α-光谱突变导致的家庭活动严重胎儿和新生儿溶血性

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摘要

Hereditary spherocytosis (HS) is the most common cause of inherited, nonimmune hemolytic anemia. When inherited in an autosomal dominant fashion, the anemia is typically mild. However, severe, transfusion-dependent anemia is seen in autosomal recessive HS, which is often associated with deficient or absent red blood cell membrane protein alpha-spectrin. We report a 26-year-old para one who was referred to our center at 28 weeks' gestation due to concerns for fetal anemia. Evaluation revealed elevated peak systolic velocity in the middle cerebral artery by Doppler scan and fetal cardiomegaly. Fetal hematocrit obtained by sampling the umbilical vein was 9% confirming severe fetal anemia. Fetal peripheral smear was consistent with hereditary spherocytosis. Genetic analysis of both parents confirmed heterozygosity for the SPTA1 variants (pathogenic variant c.4180del (p.C1394Afs*25), and a variant of uncertain significance, c.1677G>T (p.G449G)) detected by a hemolytic anemia panel in the patient's first child. It is important to consider genetic causes of anemia in patients presenting with severe nonimmune fetal anemia, including autosomal recessive HS. We present a case of autosomal recessive HS with a novel pathogenic variant in the SPTA1 gene which resulted in significant impact on prenatal management.
机译：遗传性球织毒症（HS）是最常见的遗传性非免疫性血压贫血原因。当以常染色体显性方式遗传时，贫血通常是温和的。然而，在常染色体隐性HS中可以看到严重的输血依赖性贫血，其通常与缺乏或不存在的红细胞膜蛋白α-光谱相关。我们报告了一个26岁的帕拉，由于胎儿贫血的担忧，在28周的妊娠中被提交给我们的中心。评价揭示了多普勒扫描和胎儿心脏肿大中脑动脉升高的峰值收缩速度。通过取样脐静脉获得的胎儿血细胞比容为9％，确认严重的胎儿贫血。胎儿外周涂片与遗传性球致症均一致。父母的遗传分析证实了SPTA1变体的杂合子（致病变异C.4180del（P.C1394AFS * 25），以及由溶血性贫血面板检测到的不确定意义的变异性C.1677G> T（P.G449G））患者的第一个孩子。重要的是要考虑患有严重非免疫胎儿贫血的患者贫血的遗传原因，包括常染色体隐性HS。我们在SPTA1基因中提出了一种具有新的致病变体的常染色体隐性HS，导致产前管理显着影响。

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