J Korean Med Sci.  2019 Oct;34(39):e258. 10.3346/jkms.2019.34.e258.

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

Affiliations
  • 1Department of Laboratory Medicine, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. daehyuni1118@amc.seoul.kr
  • 2Seegene Medical Foundation, Seoul, Korea.
  • 3Department of Laboratory Medicine, Kangdong Sacred Heart Hospital, Seoul, Korea.
  • 4Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
  • 5Department of Infectious Diseases, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

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, Se³âµâ·), respectively. This highlights the need for both forward and reverse grouping.

Keyword

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

MeSH Terms

ABO Blood-Group System
Agglutination
Anemia
Asian Continental Ancestry Group
B-Lymphocytes
Blood Group Antigens
Blood Transfusion
Erythrocytes
Fever
Humans
Indicators and Reagents
Korea
Mycobacterium Infections, Nontuberculous
Phenotype
Tertiary Care Centers*
Young Adult
ABO Blood-Group System
Blood Group Antigens
Indicators and Reagents
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