Homozygous variants of the new allele A4GALT result in rare p blood groups
10.3760/cma.j.cn114452-20240928-00536
- VernacularTitle:新等位基因A4GALT纯合变异致罕见p血型
- Author:
Ziyi HE
1
;
Yingming HU
;
Guangping LUO
;
Xiaomei JIE
;
Menghui BEI
;
Xianguo XU
Author Information
1. 东莞市中心血站输血研究室，东莞 523011
- Keywords:
P blood-group system;
Anti-PP1P K;
Gene sequencing;
Mutation
- From:
Chinese Journal of Laboratory Medicine
2024;47(11):1345-1348
- CountryChina
- Language:Chinese
-
Abstract:
The proband was a 33-year-old pregnant woman (G4P1) who suffered spontaneous abortion in the first 3 months of pregnancy without a history of blood transfusion or transplantation. The fourth pregnancy was clinically diagnosed with threatened abortion, and a cesarean section was performed on June 28, 2023, at the Obstetrics and Gynecology Department of Dongguan Hospital of Traditional Chinese Medicine. During cross-matching tests, unexpected antibodies were detected in the proband′s plasma, which could not be specifically identified, and no suitable donor red blood cells could be found. The blood samples were sent to the Blood Transfusion Laboratory of Dongguan Blood Center. The laboratory used serology to identify the erythrocyte phenotype of the proband and confirmed the proband as having a rare p blood group. The unexpected antibody was identified as anti-PP1P K, and gene sequencing of the proband revealed that the new allele A4GALT* (c.100G>A+c.418_428delins) was homozygous, which is speculated to cause changes in the polypeptide chains p.Veral34ile and p.GERln140TRPFS *73, and inactivation of α1, 4-galactosyltransferase. At the same time, another new allele A4GALT*c.100G>A was found in family members, and it was predicted that the single change of p.Val34Ile caused by this mutation would not affect protein function or enzyme activity.
