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To the Editor: 1 Lyons J. On the complexities of tryptase genetics and impact on clinical phenotypes. J Allergy Clin Immunol. J Allergy Clin Immunol 2021;148:xxx-xxx.
This paper is only available as a PDF. To read, Please Download here. ABSTRACT Background Hereditary alpha tryptasemia (HαT) is found in approximately 7% of the population. Associations with a variety of clinical symptoms including gastric reflux, joint hypermobility, dysautonomia, flushing and pruritus, and Hymenoptera allergy have variably been described in prior reports.
Serum tryptase is the product of two genes – TPSAB1 and TPSB2. While TPSB2 reliably contains the β2 and β3 alleles, TPSAB1 contains either the α or β1 allele to produce three possible genotypes - αα:ββ, αβ:ββ, and ββ:ββ. Hereditary alpha tryptasemia is a genetic trait defined by one or more extra copies of the α-tryptase allele. This is the first report of an extra copy of the β-tryptase allele.
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