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新生儿 Gerbich 溶血病的分子特征及多学科管理。

Molecular characterization and multidisciplinary management of Gerbich hemolytic disease of the newborn.

机构信息

Department of Pediatrics, Inova Children's Hospital, Falls Church, Virginia.

Blood Transfusion Service Zurich, Swiss Red Cross (SRC), Zürich-Schlieren, Switzerland.

出版信息

Pediatr Blood Cancer. 2018 Jun;65(6):e27014. doi: 10.1002/pbc.27014. Epub 2018 Feb 22.

Abstract

Gerbich (Ge) antigens are high frequency red cell antigens expressed on glycophorin C (GYPC) and glycophorin D. Hemolytic disease of the fetus and newborn (HDFN) due to Gerbich antibody is rare and presents a clinical challenge, as Gerbich negative blood is scarce. We report a case of HDFN due to maternal Ge3 negative phenotype and anti-Ge3 alloimmunization, successfully managed by transfusion of maternal blood. Molecular testing revealed that the mother has homozygous deletion of exon 3 of GYPC, the father is homozygous wildtype for GYPC, and the infant is obligate heterozygote expressing Ge3.

摘要

Gerbich(Ge)抗原是高频率的红细胞抗原,表达在糖蛋白 C(GYPC)和糖蛋白 D 上。由于 Gerbich 抗体引起的胎儿和新生儿溶血病(HDFN)较为罕见,且存在临床挑战,因为 Gerbich 阴性血液稀缺。我们报告了一例由于母亲 Ge3 阴性表型和抗-Ge3 同种免疫引起的 HDFN,通过输注母亲的血液成功治疗。分子检测显示,母亲 GYPC 外显子 3 缺失纯合子,父亲 GYPC 野生型纯合子,婴儿为表达 Ge3 的强制性杂合子。

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