Blood: Hereditary alpha-trypsinemia is an effective genetic biomarker of hypertrophic cell hypertrophicity.

Hypertrophic cell hyperploma is a blood system tumor characterized by cloned amplification of KIT D816V mutant hypertrophic cells in multiple organs, leading to severe and even life-threatening allergic reactions.
Recent studies have found that hereditary alpha-trypsinemia (H-alphaT) may be a common genetic feature of hypertrophic cell hypertrophicity, with an increase in the number of copies of the alpha-trypsin-coding gene TPSAB1 associated with elevated levels of the underlying serum trypsin and an increased risk of hypertrophic cell activity.
study aims to clarify the clinical rate of H alphaT in patients with hypertrophic cell hypertrophicity.
used PCR to evaluate the TPSAB1 embryo copy number variation of 180 patients with hypertrophic cell hypertrophicity, 180 gender-matched control individuals, 720 other myelin tumor patients, and an additional 61 patients with hypertrophic cell hypertrophicity in another independent validation queue.
A number of H-alpha-compatible TBSAB1 copies was detected in 17.2% of hypertrophic patients and 4.4% of control individuals.
levels of trypsin were higher in patients with H-alpha T-plus than in patients with H-alpha T-patients (49.6 ng/mL vs. 34.5 ng/mL, p-0.004) and were independent of hypertrophic cell load.
patients with H-alpha T-hypertrophic cell hypertrophy were more likely to have hypersensitive reactions and severe cardiovascular media-related symptoms/allergic reactions.
these results are confirmed in a separate validation queue.
above, the high rate of H-alpha T in hypertrophic cell hyperplification suggests that copy amplification of coded TPSAB1 has a potentially pathogenic effect in disease development.
H alphaT is a new biomarker of hypertrophic cell hypertrophy that can be used to determine the risk of severe allergic reactions in a single individual.
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