Article

Letter to the Editor

Ann Lab Med 2019; 39(6): 602-605

Published online November 1, 2019 https://doi.org/10.3343/alm.2019.39.6.602

Copyright © Korean Society for Laboratory Medicine.

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

Changhee Ha , M.D.1* , Sooin Choi , M.D.2* , HongBi Yu , B.S.3 , Sejong Chun , M.D.4 , Kyeong-Hee Kim , M.D.5 , Jong-Hwan Lee , M.D.6 , In Woong Han , M.D.7 , and Duck Cho , M.D.1,3

1Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea; 2Department of Laboratory Medicine, Soonchunhyang University Hospital Cheonan, Soonchunhyang University College of Medicine, Cheonan, Korea; 3Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea; 4Department of Laboratory Medicine, Chonnam National University Medical School & Hospital, Gwangju, Korea; 5Department of Laboratory Medicine, Dong-A University Hospital, Busan, Korea; 6Department of Anesthesiology and Pain Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea; 7Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Correspondence to: Duck Cho, M.D.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2403, Fax: +82-2-3410-2719, E-mail: duck.cho@skku.edu
Jong-Hwan Lee, M.D.
Department of Anesthesiology and Pain Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-1928, Fax: +82-2-3410-0361 E-mail: jonghwanlee75@gmail.com

*These authors equally contributed to this study.

Received: February 25, 2019; Revised: February 25, 2019; Accepted: May 28, 2019

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.

Fig. 1.

Family study results of the anti-PP1Pk family. (A) P1 phenotype pedigree based on standard serologic method. The proband is indicated by an arrow. (B) Sequencing results were determined on the basis of the combined data from PCR and sequencing of A4GALT gene. The affected individuals (II-1, II-4) were homozygous for c.1029dupC. The carrier individual (II-3) was heterozygous for c.1029dupC but also carried another allele with a combined normal.

Abbreviation: dup, duplication.


Representative published cases with anti-PP1Pk, p-phenotype, and A4GALT mutation confirmed by genotyping

Cases (N)Ethnicity (N)DescriptionNucleotide changeAmino acid changeReference
40Swedish (29)N/Ac.548T > A (27)p.Met183Lys (27)Hellberg, et al. [1]
c.560G > A (2)p.Gly187Asp (2)
Israeli (3)c.657delG (3)p.Phe220fs (3)
Italian (2)c.241_243del (3)p.Phe81del (3)
English (1)
Pole (1)c.290C > T, c.769delG (1)p.Ser97Leu, p.Val257fs (1)
Norwegian (1)c.733_734insG (1)p.Ile245fs (1)
Japanese (1)c.1029dupC (1)p.Thr344fs (1)
3JapaneseN/Ac.241_243del (1)p.Phe81del (1)Koda, et al. [2]
c.1029dupC (2)p.Thr344fs (2)
20Israeli (2)N/Ac.68dup (2)p.Phe24fs (2)Hellberg, et al. [3]
Italian (3)c.241_243del (2)p.Phe81del (2)
c.287G > A (1)p.Cys96Tyr (1)
Asian (1)c.418_428delins, c.1029dupC (1)p.Gln140fs, p.Thr344fs (1)
Brazilian (1)c.473G > A (1)p.Trp158* (1)
Unknown (1)c.504dupC (1)p.Tyr169fs (1)
Swedish (1)c.548T > A (1)p.Met183Lys (1)
French (2)c.656C > T (1)p.Ala219Val (1)
c.656C > T, c.997del (1)p.Ala219Val, p.Leu333fs (1)
Israeli (2)c.657delG (2)p.Phe220fs (2)
Unknown (1)c.751C > T, c.903delC (1)p.Pro251Ser, p.Glu302fs (1)
Unknown (5)c.752C > T (5)p.Pro251Leu (5)
Unknown (1)c.972_997del (1)p.Arg325fs (1)
1ChineseBlood donorc.301delGp.Ala101fsYan, et al. [4]
2TaiwaneseBlood donorc.418_428delinsp.Gln140fsWang, et al. [5]
1ChineseRepeated spontaneous abortionc.345delAp.Leu117fsLi, et al. [6]
2KoreanGB cancer (proband), brotherc.1029dupCp.Thr344fsPresent case

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