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The First Case of Para-Bombay Blood Type Encountered in a Korean Tertiary Hospital

Journal of Korean Medical Science 2019년 34권 39호 p.258 ~ 258
 ( Kim Min-Sun ) - University of Ulsan College of Medicine Asan Medical Center Department of Laboratory Medicine

김진석 ( Kim Jin-Seok ) - University of Ulsan College of Medicine Asan Medical Center Department of Laboratory Medicine
 ( Park Hye-Won ) - Seegene Medical Foundation
 ( Chung You-Sun ) - Hallym University Kangdong Sacred Heart Hospital Department of Laboratory Medicine
 ( Kim Hyung-Suk ) - Seoul National University Hospital Department of Laboratory Medicine
 ( Ko Dae-Hyun ) - University of Ulsan College of Medicine Asan Medical Center Department of Laboratory Medicine
 ( Kim Sung-Han ) - University of Ulsan College of Medicine Asan Medical Center Department of Infectious Diseases
 ( Hwang Sang-Hyun ) - University of Ulsan College of Medicine Asan Medical Center Department of Laboratory Medicine
 ( Oh Heung-Bum ) - University of Ulsan College of Medicine Asan Medical Center Department of Laboratory Medicine

Abstract


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.

키워드

Human FUT1 Protein; Human FUT2 Protein; H Blood Group System
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