Department of Pediatrics, Inova Children's Hospital, Falls Church, Virginia.
Blood Transfusion Service Zurich, Swiss Red Cross (SRC), Zürich-Schlieren, Switzerland.
Pediatr Blood Cancer. 2018 Jun;65(6):e27014. doi: 10.1002/pbc.27014. Epub 2018 Feb 22.
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.
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。
