Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype

Abstract

The first case of p phenotype in Taiwan was caused by a non-functional allele resulting from a homozygous complex mutation of A4GALT gene.

Molecular basis for the p and Pk phenotypes in three Chinese individuals

“…The molecular basis of the p phenotype was previously analysed in different populations and shown to be extremely heterogeneous (Koda et al ., ; Hellberg et al ., ; Wang et al ., ). In this study, we found p(1026‐1029insC) and p(972‐997del) alleles in the Chinese individuals with p phenotype.…”

First Case in Korea of a Patient With Anti-PP1Pk Antibodies: Successful Blood Management via Acute Normovolemic Hemodilution

“…Anti-PP1Pk antibodies can be produced in individuals with the p phenotype without exposure to P antigens through transfusion or pregnancy. Anti-PP1Pk antibody positivity in patients without a history of P antigen exposure have been reported [45]. Our patient had delivered two children fathered by her non-p phenotype husband (P1 antigen positivity was confirmed by P1 phenotyping), but she had no history of transfusion.…”

“…In Europeans, the frequency of the p phenotype is approximately 5.8 in 1,000,000 [1]. However, its frequency in Asians remains difficult to predict because very few cases have been reported in the Japanese, Chinese, and Taiwanese populations [23456]. Individuals with this phenotype can develop naturally occurring anti-PP1Pk antibodies, which are clinically relevant and cause hemolytic transfusion reactions or hemolytic diseases of the fetus and newborn [7].…”

Red blood cell genotyping in China

“…For the rare p phenotype in P1Pk blood group system, P1 and Pk antigens are absent from the surface of red cells, and sometimes, the probands carry a naturally occurring antibody known as anti‐Tja. A total of five Chinese Han probands with p phenotype were identified from Zhejiang ( n = 3, males) , Guangdong ( n = 1, female with several spontaneous miscarriages and without successful pregnancy) and Taiwan ( n = 1, female) . Four different mutations (300_301delG, Ala101Profs*11 ; 418_428del11ins34, Gln139Trpfs*72 ; 972_997del26, Thr324Thrfs*112 ; and 1029_1030insC, Thr344Hisfs*101 ) of the A4GALT gene, of which some previously described in USA and Japanese, were identified.…”