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KMID : 0191120190340390258
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Journal of Korean Medical Science
2019 Volume.34 No. 39 p.258 ~ p.258
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The First Case of Para-Bombay Blood Type Encountered in a Korean Tertiary Hospital
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Kim Min-Sun
Kim Jin-Seok
Park Hye-Won
Chung You-Sun
Kim Hyung-Suk
Ko Dae-Hyun
Kim Sung-Han
Hwang Sang-Hyun
Oh Heung-Bum
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Abstract
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Para-Bombay phenotypes are rare blood groups that have inherent defects in producing H antigens associated with FUT1 and/or FUT2. We report the first case of para-Bombay blood type in a Southeast Asian patient admitted at a tertiary hospital in Korea. A 23-year-old Indonesian man presented to the hospital with fever and was diagnosed with a disseminated nontuberculous mycobacterium infection and anemia. During blood group typing for blood transfusion, cell typing showed no agglutination with both anti-A and anti-B reagents. Serum typing showed strong reactivity against B cells and trace agglutination pattern with A1 cells. His red blood cells failed to react with anti-H reagents. Direct sequencing of FUT1 and FUT2 revealed a missense variation, c.328G>A (p.Ala110Thr, rs56342683, FUT1*01W.02), and a synonymous variant, c.390C>T (p.Asn130=, rs281377, Se357), respectively. This highlights the need for both forward and reverse grouping.
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KEYWORD
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Human FUT1 Protein, Human FUT2 Protein, H Blood Group System
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