Anti-PP1Pk (Tja) Antibody in a Korean Female Patient with p Phenotype Confirmed by Genotyping

Boyeon Kim; Seung Jun Choi; Duck Cho; Sinyoung Kim; Hyun Ok Kim

doi:10.3343/lmo.2020.10.1.84

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Kim, Choi, Cho, Kim, and Kim: Anti-PP1Pk (Tja) Antibody in a Korean Female Patient with p Phenotype Confirmed by Genotyping

Case Report

Laboratory Medicine Online 2020; 10(1): 84-87.

Published online: 27 December 2019

DOI: https://doi.org/10.3343/lmo.2020.10.1.84

Anti-PP₁P^k (Tj^a) Antibody in a Korean Female Patient with p Phenotype Confirmed by Genotyping

Boyeon Kim, M.D.¹, Seung Jun Choi, M.D.¹

, Duck Cho, M.D.^2,³, Sinyoung Kim, M.D.¹, Hyun Ok Kim, M.D.¹

¹Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

²Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

³Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea.

Corresponding author: Seung Jun Choi, M.D., Ph.D. Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Korea. Tel: +82-2-2228-2453, Fax: +82-2-364-1583, choisj34@yuhs.ac

Received 19 March 2019 Revised 4 July 2019 Accepted 8 July 2019

Laboratory Medicine Online

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

In this study, we report a case of anti-PP₁Pk (Tj^a) alloantibody with p phenotype detected and confirmed in a 20-year-old Korean woman diagnosed with anemia during long-term rehabilitation treatment due to mental retardation. She did not have any transfusion history, except two exchange transfusions received 6 days after she was born. Her blood type was B, RhD+, and findings from antibody screening and identification tests showed strong reactivity (3+ to 4+) in all panel cells except in her autologous cells. Based on these results, we concluded that she had an alloantibody to a high-prevalence antigen. Anti-PP1Pk alloantibody with p phenotype was identified by additional serological tests in a foreign reference laboratory. To confirm the patient's p phenotype, polymerase chain reaction and sequencing of the A4GALT gene were performed on her blood sample. She was homozygous for c.301delG in the A4GALT gene, which finally confirmed that she had the anti-PP₁P^k antibody with p phenotype. Fortunately, her anemia caused due to iron deficiency could be treated with iron supplementation without the need for any transfusion. However, it remains extremely difficult to find compatible red blood cells in such settings in Korea. Moreover, there has been very little research on the prevalence of the p phenotype in the Korean population. Therefore, additional research is needed on rare blood group antibodies and high-prevalence antigens, including anti-PP₁P^k cases.

Keywords: P blood-group system, Blood transfusion, Alloantibodies, A4GALT gene

Figures and Tables

Fig. 1

Identification of the A4GALT gene mutation. Direct sequencing of DNA from the patient's blood sample demonstrated a homozygotic silent mutation, c.903C>G (p.=) and a homozygotic frameshift mutation, c.301delG (p.Ala101Profs13) in the A4GALT* gene. The locations of the variations are indicated by black arrows. Reference sequence: NG_007495.2.

Table 1

Laboratory findings before and after treatment of the patient for iron-deficiency anemia

^*These results were obtained from the tests performed one year after treatment for patient's iron-deficiency anemia.

Abbreviations: MCV, mean corpuscular volume; MCH, mean corpuscular hemoglobin; MCHC, mean corpuscular hemoglobin concentration; TIBC, total iron-binding capacity.

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ORCID iDs: Seung Jun Choi
https://orcid.org/0000-0003-0736-1055
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