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Genotyping of the rare Para-Bombay blood group in southern Thailand.
Rattanapan, Yanisa; Charong, Nurdina; Narkpetch, Sodsai; Chareonsirisuthigul, Takol.
Afiliação
  • Rattanapan Y; School of Allied Health Sciences, Walailak University, Nakhon Si Thammarat, Thailand; Hematology and Transfusion Science Research Center, Walailak University, Nakhon Si Thammarat, Thailand.
  • Charong N; School of Allied Health Sciences, Walailak University, Nakhon Si Thammarat, Thailand; Hematology and Transfusion Science Research Center, Walailak University, Nakhon Si Thammarat, Thailand.
  • Narkpetch S; Blood Bank, Maharaj Nakhon Si Thammarat Hospital, Nakhon Si Thammarat, Thailand.
  • Chareonsirisuthigul T; Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. Electronic address: takol.cha@mahidol.ac.th.
Hematol Transfus Cell Ther ; 45(4): 449-455, 2023.
Article em En | MEDLINE | ID: mdl-36241527
INTRODUCTION: The para-Bombay phenotype, or H-deficient secretor, results from different mutations of the FUT1, with or without the FUT2 mutation. Consequently, there is an absent or weak expression of the H antigen on red blood cells (RBCs). Routine ABO blood grouping for two siblings with blood group O showed discrepant results with their parental blood group AB. Fragments encompassing the entire coding region of the FUT1 and FUT2 genes were investigated. METHODS: Blood and saliva specimens were collected to verify the correct ABO grouping by cell grouping, serum grouping and the hemagglutination inhibition (HI) test, respectively. The FUT1 and FUT2 genomes were identified using the whole-exome sequencing (WES) in two children's DNA blood specimens and may have caused, or been relative to, their blood group. Genetic variations of the FUT1 and FUT2 genes have been investigated in the other family members using the Sanger sequencing. RESULTS: The serologic reaction results of the proband revealed that A, B and H antigens were absent on RBCs, and that the serum contained anti-H. However, ABH and AH antigens were present in the saliva PB1 and PB2, respectively. The probands PB1 and PB2 were assigned as AB and A blood groups, respectively. Blood genotyping confirmed that heterozygous mutations of the FUT1 gene, c.551_552delAG, were identified. Three family members, PB3, PB, and PB8, also showed normal ABO blood groups, but their genotypes were also the FUT1 mutation c.551_552delAG. CONCLUSIONS: The FUT1 mutation c.551_552delAG may result in the reduced or absent H antigen production on RBCs, which characterizes the para-Bombay phenotypes. Blood genotyping is essential if these individuals need a blood transfusion or are planning to donate blood.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hematol Transfus Cell Ther Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Tailândia País de publicação: Brasil
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hematol Transfus Cell Ther Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Tailândia País de publicação: Brasil