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Autosomal Dominant Isolated Macrothrombocytopenia 1
A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and is caused by autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
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Overview
A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and is caused by autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.
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