Abstract
A 35-year-old woman presented with symptoms of anemia and hemoglobin of 5.5 g/dL. The patient's blood sample was subjected to standard serological blood grouping, using both tube and column agglutination techniques. Group I discrepancy was found between cell grouping (O Rh D positive) and serum grouping (A group). Serological tests revealed no detectable H antigen on red cells despite presence of normal ABO antigens in the secretions, indicating a para-Bombay Ah secretor phenotype. Blood group genotyping revealed homozygosity for both the FUT1 c.328G>A mutation and the FUT2 c.357C>T mutation, leading to diminished H antigen expression in RBC and intact secretor function, respectively. This rare case of para-Bombay (Ah) secretor phenotype expands the spectrum of H-deficient phenotype reported from India and highlights complexity of blood group typing and importance of molecular diagnostics in rare phenotypes.
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Authors
Thamizhsurabi Arivazhagan
Department of Transfusion Medicine, ESIC Medical College Hospital, Hyderabad, India
Tejaswi Chada
Department of Transfusion Medicine, ESIC Medical College Hospital, Hyderabad, India
Srinivasa Rao Chunchu
Department of Transfusion Medicine, ESIC Medical College Hospital, Hyderabad, India
Monali Lokhande
Department of Transfusion Medicine, ICMR-National Institute of Immunohematology, Mumbai, India
Rati Devendra
Department of Transfusion Medicine, ICMR-National Institute of Immunohematology, Mumbai, India
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