XK gene deletion leading to McLeod syndrome and high-frequency antigen antibodies: identification and transfusion strategy
10.13303/j.cjbt.issn.1004-549x.2025.08.017
- VernacularTitle:XK基因缺失致罕见Mcleod综合征和高频抗原抗体鉴定及输血策略研究
- Author:
Jing LI
1
;
Kewen YAO
2
;
Yun DU
3
;
Haiyan HU
3
;
Hongli ZHANG
1
Author Information
1. Central Blood Station of Baoding, Baoding 071000, China
2. Maternal and Child Health Care Hospital of Baoding, Baoding 071000, China
3. Department of Blood Transfusion, Baoding Hospital of Beijing Children's Hospital, Capital Medical University, Baoding 071000, China
- Publication Type:Journal Article
- Keywords:
X-linked disorders;
XKgene;
chronic granulomatous disease;
Mcleod syndrome;
acanthocytes;
anti-KL
- From:
Chinese Journal of Blood Transfusion
2025;38(8):1107-1112
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the hematological characteristics of the rare McLeod phenotype associated with X-linked chronic granulomatous disease, KEL and XK gene analysis, identification of unexpected antibodies, serological characteristics of high-frequency antigen antibodies, and transfusion strategies. Methods: Serological methods were employed to determine the ABO, Rh, and other blood group system antigen phenotypes of the child, along with screening and identification of unexpected antibodies. The titers of high-frequency antigen antibodies were measured using tube antihuman globulin and microcolumn gel card techniques. Kell blood group typing was performed using serological and genotyping methods, while XK gene sequencing was conducted via next-generation sequencing. Peripheral blood smears from the child's mother were examined for erythrocyte morphology. Results: The child's serological results were as follows: blood group O, ccDEE, MM, Le(a-b+), JK(a+b+), Fy(a+b-), and Kell phenotype K-k+, Kp(a-b+). Plasma analysis revealed alloantibodies anti-C、e, as well as a high-frequency antigen antibody anti-KL, with titers of 512 (tube method) and 2 048 (microcolumn gel method). Genotyping results showed KEL genotype K-k+, Kp(a-b+), Js(a-b+), while XK gene NGS identified a hemizygous deletion of exons 1-3 (XK
N. 01), consistent with XK: -1 or Kx-(McLeod). The mother's peripheral blood smear exhibited prominent acanthocytes. Conclusion: The hematological features of this rare McLeod phenotype with X-CGD include weakened Kell antigen expression and a complete exon deletion in the XK gene. Early clinical attention should be given to the symptoms and laboratory diagnosis of X-linked chronic granulomatous disease in pediatric patients. XK genotyping for McLeod phenotype should be prioritized to guide cautious transfusion strategies, preventing life-threatening complications due to incompatible blood products.
