Tryptase haplotype in mastocytosis: Relationship to disease variant and diagnostic utility of total tryptase levels

Cem Akin, Darya Soto, Erica Brittain, Adhuna Chhabra, Lawrence B. Schwartz, George H. Caughey, Dean D. Metcalfe

Research output: Contribution to journalArticle

Abstract

Serum mast cell tryptase levels are used as a diagnostic criterion and surrogate marker of disease severity in mastocytosis. Approximately 29% of the healthy population lacks α tryptase genes; however, it is not known whether lack of α tryptase genes leads to variability in tryptase levels or impacts on disease severity in mastocytosis. We have thus analyzed tryptase haplotype in patients with mastocytosis, computing correlations between haplotype and plasma total and mature tryptase levels; and disease category. We found: (1) the distribution of tryptase haplotype in patients with mastocytosis appeared consistent with Hardy-Weinberg equilibrium and the distribution in the general population; (2) the disease severity and plasma tryptase levels were not affected by the number of α or β tryptase alleles in this study; and (3) information about the tryptase haplotype did not provide any prognostic value about the severity of disease. Total and mature tryptase levels positively correlated with disease severity, as well as prothrombin time and partial thromboplastin time, and negatively correlated with the hemoglobin concentration.

Original languageEnglish (US)
Pages (from-to)268-271
Number of pages4
JournalClinical Immunology
Volume123
Issue number3
DOIs
StatePublished - Jun 2007

Keywords

  • Allele
  • Genotype
  • Haplotype
  • Mastocytosis
  • Partial thromboplastin time
  • Prothrombin time
  • Tryptase

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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