Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels - PubMed (original) (raw)

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

Cem Akin et al. Clin Immunol. 2007 Jun.

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 alpha tryptase genes; however, it is not known whether lack of alpha 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 alpha or beta 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.

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Figures

Figure 1

Figure 1

Total (A) and mature (B) tryptase levels in patients with mastocytosis according to tryptase haplotype. Lines indicate median values for each category. CM, cutaneous mastocytosis; ISM, indolent systemic mastocytosis; SSM, smoldering systemic mastocytosis; SM-AHNMD, systemic mastocytosis with an associated hematologic clonal non-mast cell lineage disease; ASM, aggressive systemic mastocytosis.

Figure 2

Figure 2

Correlations of total (A-C) and mature (D-F) tryptase levels with prothrombin time (PT), partial thromboplastin time (PTT) and hemoglobin levels. Prothrombin time and partial thromboplastin time values were not available for all patients.

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