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Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms

28 Sept 2022

Abstract excerpt

Serum tryptase is a biomarker used to aid in the identification of certain myeloid neoplasms, most notably systemic mastocytosis, where basal serum tryptase (BST) levels >20 ng/mL are a minor criterion for diagnosis. Although clonal myeloid neoplasms are rare, the common cause for elevated BST levels is the genetic trait hereditary α-tryptasemia (HαT) caused by increased germline TPSAB1 copy number. To date, the...

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PMID: 36170795
DOI: 10.1182/bloodadvances.2022007936

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