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KMID : 0387720200310020153
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Korean Journal of Blood Transfusion
2020 Volume.31 No. 2 p.153 ~ p.158
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Weak D Type 102 Found in a Family Study: The First Case in Korea
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Lee Beom-Ki
Chung Yoo-Na
Yu Hong-Bi
Kim Tae-Yeul
Choi Kwang-Mo
Cho Duck
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Abstract
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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.
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KEYWORD
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RHD, Genotyping, Weak D, Rhesus box, In silico analysis
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