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

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 ho...

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Detalles Bibliográficos
Autores principales: Kim, Min-Sun, Kim, Jin Seok, Park, Hyewon, Chung, Yousun, Kim, Hyungsuk, Ko, Dae-Hyun, Kim, Sung-Han, Hwang, Sang-Hyun, Oh, Heung-Bum
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6786960/
https://www.ncbi.nlm.nih.gov/pubmed/31602828
http://dx.doi.org/10.3346/jkms.2019.34.e258
Descripción
Sumario: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, Se(357)), respectively. This highlights the need for both forward and reverse grouping.