1.
Vox Sang
; 114(2): 171-173, 2019 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30523644
RESUMO
We found an individual with weakened S antigen expression on red blood cells (RBCs) during routine blood grouping. The proband was typed S+s+ by polyclonal antibodies, but the RBCs demonstrated different reactivity with three monoclonal anti-S. The proband did not have alloanti-S. Cloning and Sanger sequencing revealed that the proband had a c.166A>T (p.Thr56Ser) mutation in exon 4 of GYPB*S. When antibody screening of 60 455 blood donors was performed using the proband RBCs, no antibodies were detected. GYPB*S with c.166T should encode an unusual S antigen but the creation of a novel antigen remains to be investigated.
Assuntos
Antígenos de Grupos Sanguíneos/genética , Glicoforinas/genética , Mutação , Doadores de Sangue , Antígenos de Grupos Sanguíneos/metabolismo , Eritrócitos/metabolismo , Frequência do Gene , Glicoforinas/metabolismo , Humanos
2.
Thromb Res
; 233: 37-40, 2024 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37995440
3.
Protein S deficiency caused by cryptic splicing due to the novel intron variant c.346+5G>C in PROS1.
Thromb Res
; 229: 26-30, 2023 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37390525