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A novel FUT1 variant allele was identified in a Chinese Para‐Bombay individual

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The H blood group system is one of the important human blood group systems in the field of immunohematology. In 1952, the first case of H-deficient Bombay blood group was… Click to show full abstract

The H blood group system is one of the important human blood group systems in the field of immunohematology. In 1952, the first case of H-deficient Bombay blood group was reported, and since then, a series of variants of the H gene have been discovered. In 1994, Kelly et al. reported for the first time the molecular mechanism of Bombay and Para-Bombay blood groups, indicating that ParaBombay type was caused by the mutation of FUT1 gene. The Para-Bombay phenotype results either from a silenced FUT1 gene present together with an active FUT2 gene, or from a mutated FUT1 gene in which the encoded enzyme activity is greatly diminished. We now report the discovery of a new Para-Bombay phenotype in a Chinese woman caused by the mutation c.803G > A of FUT1 allele.

Keywords: blood group; fut1; gene; para bombay

Journal Title: Transfusion
Year Published: 2021

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