Inherited Bone Marrow Failure: Genetic Testing and Advantages of Early Diagnosis

It is important to distinguish inherited from acquired bone marrow failure for proper clinical management of patients and their families. Genetic testing can help identify possible causes of disease that inform decisions regarding appropriate therapies, potential donors for bone marrow transplant, and potential risk for comorbidities. In our NSGC presentation, Dr. Chicka, PhD, discusses Inherited Bone Marrow failure syndromes (IBMFs) and the importance of sample type for genetic testing of IBMFs.

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Can bone marrow failure be prevented in patients with gray platelet syndrome?

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Most patients with gray platelet syndrome (GPS) are treated symptomatically. Genetic testing can help confirm a diagnosis of GPS which helps inform treatment options for symptoms of GPS which may include cytopenias, excessive bleeding, immune cell dysfunction, and myelofibrosis.