Bienz Marc, Constanzo-Yanez Jessica, Baillargeon Nadia, Leiva-Torres Gabriel André, Boileau Mélissa, Cloutier Marc, Laforce-Lavoie Audrey, Robitaille Nancy
Transfusion Medicine, Héma-Québec, Montréal, Québec, Canada.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Transfusion. 2025 Jan;65(1):234-239. doi: 10.1111/trf.18087. Epub 2024 Dec 2.
Homozygous inheritance of the R haplotype, characterized by the absence of the high frequency antigen Sec, as well as partial C and e antigens, is rare and is associated with potential for alloimmunization. Anti-Sec has been reported to be associated with a risk of delayed hemolytic transfusion reaction and hemolytic disease of the fetus and newborn (HDFN).
We report the case of a 36-year-old pregnant woman with known sickle cell trait (SCT) and homozygous for the R haplotype with anti-Sec, anti-c, and anti-e. Morphological ultrasound identified dextro-transposition of the great arteries in the fetus. Neonatal cardiac surgery was planned with cardiopulmonary bypass support. Due to the rarity of this genotype, there were no compatible donors in our registry. For this reason, in addition to two previously glycerolized maternal donations, the mother donated three units during pregnancy and one unit postpartum.
This case highlights the many complexities for the blood supplier pertaining to organizing blood donations during pregnancy, the risk of leukoreduction failure and jellification during the deglycerolization process of units from donors with rare blood carrying the SCT, as well as planning the rare-blood inventory and managing expiry dates to provide transfusion support during delivery, neonatal surgery, and the postoperative period. This case also exemplifies the importance of a strong partnership between blood suppliers and medical teams.
R单倍型的纯合子遗传特征为缺乏高频抗原Sec以及部分C和e抗原,这种情况较为罕见,且与同种免疫的可能性相关。据报道,抗Sec与迟发性溶血性输血反应以及胎儿和新生儿溶血病(HDFN)的风险有关。
我们报告了一例36岁的孕妇病例,该孕妇已知患有镰状细胞性状(SCT),且为R单倍型纯合子,体内存在抗Sec、抗c和抗e抗体。形态学超声检查发现胎儿大动脉右位转位。计划在体外循环支持下为新生儿进行心脏手术。由于这种基因型非常罕见,我们的登记库中没有匹配的献血者。因此,除了之前两份甘油化的母亲献血外,母亲在孕期又捐献了三个单位的血液,产后又捐献了一个单位。
该病例凸显了血液供应机构在组织孕期献血过程中面临的诸多复杂问题,包括来自携带SCT的稀有血型献血者的血液在去甘油化过程中白细胞去除失败和凝胶化的风险,以及规划稀有血型库存和管理有效期以在分娩、新生儿手术及术后提供输血支持等问题。该病例还例证了血液供应机构与医疗团队之间紧密合作关系的重要性。