Identification of Jr(a-) rare blood type antibodies against anti-Jra: serological and molecular biology analysis and transfusion strategy
10.3760/cma.j.cn511374-20240930-00515
- VernacularTitle:Jr(a-)稀有血型抗-Jra患者的血清学与分子生物学鉴定及输血策略
- Author:
Yunxiang WU
1
;
Hua WANG
;
Ruiqing GUO
;
Zhicheng LI
;
Qing LI
;
Dong XIANG
;
Yanli JI
;
Aijing LI
;
Fengyong ZHAO
;
Fei WANG
;
Jiangtao ZUO
;
Yi XU
;
Yajun LIANG
;
Demei ZHANG
Author Information
1. 太原市血液中心（太原市输血技术研究所），太原 030024
- Publication Type:Journal Article
- Keywords:
Jr(a-) rare blood type;
Anti-Jra;
Matrix-assisted laser desorption/ionization-time of flight mass spectrometry;
Difficult blood matching;
ABCG2 gene
- From:
Chinese Journal of Medical Genetics
2025;42(2):145-150
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report the blood group antigen and antibody specificity identification methods for a patient with high-frequency antibodies, and the process of finding and providing compatible blood for the patient.Methods:A patient sent from the Blood Transfusion Department of Shanxi Provincial People′s Hospital to Taiyuan Blood Center in November 2022 was selected for the study. Classical serological methods were used to determine the patient′s blood type, screen for unexpected antibodies, identify antibodies, and perform crossmatching. High-frequency antibody identification was carried out using red blood cells treated with various enzymes. Blood group genotyping was conducted using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF) and Sanger sequencing. Multiple strategies were employed to address the patient′s blood source problem. The study was approved by the Medical Ethics Committee of Taiyuan Blood Center [Ethics No. 2024 Ethics Review No.(2)].Results:①The patient′s blood type was B, RhD positive. Initial screening of the patient′s serum with multiple screening cells and antibody identification cells in saline medium was negative, but positive in antiglobulin medium. The patient′s serum showed varying reaction intensities with red blood cells treated with different enzymes. ②MALDI-TOF mass spectrometry and Sanger sequencing revealed a homozygous nonsense variant c. 376C>T (p.Gln126Ter) in the ABCG2 gene, resulting in the Jr(a-) phenotype. During family donor selection, the patient′s son was found to have a heterozygous variant c. 376C>T (p.Gln126Ter), and another heterozygous variant c. 421C>A (p.Gln141Lys), which predicted a Jr(a+ w) phenotype. ③Crossmatch tests confirmed the compatibility of blood from the patient′s son, which was used to address the urgent blood requirement. Later, rare blood from a Jr(a-) donor from the Guangzhou Blood Center was used for the patient′s ongoing treatment, saving the patient′s life. Conclusion:Combining classic serological testing with blood group gene typing techniques successfully identified the rare Jr(a-) blood type and high-frequency anti-Jra antibodies. Enzyme-treated red blood cell identification methods confirmed the presence of anti-Jra antibodies. By searching within the family and seeking help from other blood centers, compatible blood was found. This approach may provide insights for resolving similar complex blood matching problems in the future.
