Weak D Type 102 Found in a Family Study: The First Case in Korea
10.17945/kjbt.2020.31.2.153
- Author:
Beomki LEE
1
;
Yoo Na CHUNG
;
HongBi YU
;
Tae Yeul KIM
;
Kwang Mo CHOI
;
Duck CHO
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- Publication Type:Case Report
- From:Korean Journal of Blood Transfusion
2020;31(2):151-158
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Weak D type 102 allele (RHD*01W.102) carrying a missense variant (c.73A＞T, p.Ile25Phe) in exon 1 of the RHD has not been reported in Koreans to date. This is the first report of the weak D type 102 allele in the Korean population. The proposita, a 35-year-old woman, showed a serological weak D phenotype in routine RhD typing. Sequencing of all 10 RHD exons and zygosity testing targeting the hybrid Rhesus box revealed this proposita to harbor the weak D type 102 allele, as well as an RHD deletion (RHD*01W.102/RHD*01N.01). Family studies showed that the weak D type 102 allele was also present in her father and older brother (both assumed to be RHD*01W.102/RHD*01) but not in her mother and oldest brother (both assumed to be RHD*01/RHD*01N.01). In silico analysis of the replacement of isoleucine by phenylalanine at position 25 was done with PolyPhen-2, SIFT, and PROVEAN. While PolyPhen-2 predicted the variant as benign, SIFT and PROVEAN predicted it as damaging and deleterious, respectively, suggesting RHD c.73A>T (I25F) as the cause of serologic weak D phenotype. This patient should be treated as D-negative, when transfusion is needed.
