Hereditary Alpha-Tryptasemia (HαT) is a genetic condition characterized by elevated levels of alpha-tryptase in the blood. Alpha-tryptase is a protein produced by mast cells, a type of white blood cell that plays a key role in the immune response, particularly in allergic and inflammatory reactions.
Key points:
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Genetic Basis: Most people have two copies of the TPSAB1 gene (one from each parent), but individuals with HαT can have more copies, which results in elevated alpha-tryptase levels.
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Prevalence: HαT is considered a relatively common genetic condition, with an estimated prevalence in the general population of around 5-10%.
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Symptoms: Unexplained fatigue, generalized pain, skin flushing, and gastrointestinal symptoms. These symptoms can be non-specific and may overlap with other medical conditions.
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Diagnosis: HαT is typically diagnosed through blood tests that measure alpha-tryptase levels. A diagnosis of HαT is made when an individual has elevated baseline alpha-tryptase levels on multiple occasions.
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Management: For individuals with HαT who are experiencing symptoms, management may involve addressing specific symptoms or underlying conditions.
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Association with Other Conditions: HαT has been associated with an increased risk of Mast Cell Activation Syndrome (MCAS).
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Genetic Testing: Genetic testing for HαT typically involves analyzing the number of TPSAB1 gene copies to confirm the diagnosis.