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Hereditary Alpha Tryptasemia
Open accessAbstract
Hereditary alpha tryptasemia is an autosomal dominant genetic trait caused by increased germline copies of TPSAB1 encoding alpha-tryptase. Individuals with this trait have elevated basal serum tryptase, and may present with associated multisystem complaints. Both basal serum tryptase levels and severity of clinical symptoms display a gene-dose relationship with TPSAB1, whereby higher tryptase levels and greater symptom severity are correlated with increasing numbers of alpha-encoding TPSAB1. As the functional effects of increased basal serum tryptase and/or altered tryptase gene expression are elucidated, greater insights will be gained into the symptoms associated with hereditary alpha tryptasemia and their potential therapy.
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“In some cases, patients with HαT do present with a clinical picture dominated by mediator-related symptoms (i.e., vibratory urticaria, flushing, abdominal cramps, headache, dysautonomia, etc.) [15,16,45].”
From Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders (2023) · cites this paper as [15]
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“Initially, various clinical conditions, including dysautonomia with postural orthostatic hypotension, fl ushing, gastrointestinal hypomotility, joint hypermobility, vibratory urticaria, irritable bowel syndrome, chronic musculoskeletal pain, retained primary dentition, and allergic disorders, were reported in patients with H a T. 120,121,125-127”
From Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review (2021) · cites this paper as [125]
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“A genetic trait, hereditary alpha tryptasemia, characterized by an increased alpha coding TPSAB1 copy number is associated with a baseline value above 8 ng/mL.”
From Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders (2023) · cites this paper as [15]
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“Hereditary alpha-tryptasemia (HαT) is an autosomal dominant genetic trait of an increased copy number of the alpha-coding (of ≥2) TPSAB1-gene [15,16], which may account for elevated serum tryptase in the absence of clonal mast cell disorders.”
From Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders (2023) · cites this paper as [15]
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“growing knowledge of hereditary alpha-tryptasemia (HαT), a germline condition causing increase in BST with not fully elucidated clinical consequences (4–6).”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [4]
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“Around a decade ago, Lyons et al. (4, 11) first described a genetic trait known as HαT, an autosomal dominant condition resulting from the multiplication of the TPSAB1 gene (Figure 1) encoding the alpha isoform of tryptase.”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [4]
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“hereditary alpha-tryptasemia (HαT), an autosomal dominant germline condition that consists in the increase of the number of copies of the TPSAB1 gene encoding the alpha isoform of tryptase”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [4]
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Metadata
- Authors
- Lyons, J. J.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Lyons, Jonathan J.
- ORCID
- Lyons, Jonathan J.
- Venue
- Immunology and Allergy Clinics of North America
- Publisher
- Elsevier BV
- Published
- 2018-08
- Volume
- 38
- Issue
- 3
- Pages
- 483-495
- ISSN
- 0889-8561 (ISSN-L)
- PMC
- PMC6411063
- OpenAlex
- W2805441868
- Cited by
- 179
- References
- 40
- Citations by year
- 2026: 23 · 2025: 23 · 2024: 20 · 2023: 23 · 2022: 20 · 2021: 39 · 2020: 15 · 2019: 14 · 2018: 1
- FWCI
- 1.76
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Immunology and Allergy Clinics of North America (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Allergy and Infectious Diseases
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Hematology › Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- hereditary alpha-tryptasemia, TPSAB1, autosomal dominant inheritance, gene dosage, serum tryptase, multisystem symptoms
- MeSH terms
- Connective Tissue, Gene Expression Regulation, Genes, Dominant, Genotype, Humans, Hypersensitivity, Immediate, Immunoglobulin E, Mast Cells, Mastocytosis, Skin, Disease Progression, Gene Dosage, Gene Duplication, Quantitative Trait Loci, Tryptases
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