In patients with persistent thrombocytopenia or platelet dysfunction for which no other cause could be found, a pathogenic variant<\/span> in the RUNX1 <\/em>gene is suspected. In addition, bleeding, thrombocytopenia, thrombocytopathy, or hematologic neoplasia known in family members may be indicative. However, it must be noted that the symptoms of a pathogenic variant in the <\/span>RUNX1 <\/em>gene can vary greatly, even within a family. For example, while one person’s only symptom is frequent nosebleeds, another person in the same family develops AML.<\/p>\n<\/div>Genetic Diagnostics<\/h4><\/div><\/div><\/div>
The diagnosis of “RUNX1 deficiency” is confirmed by the detection of a