Dr. Townsley on Screening for GATA2 in At-Risk Patients for MDS, AA, and AML

Danielle Townsley, MD, staff clinician, Cell Biology Section, National Institutes of Health, discusses screening for GATA2 in patients who are at risk for myelodysplastic syndromes (MDS), aplastic anemia (AA), and acute myeloid leukemia (AML).

Through a collaboration of National Institutes of Health research teams, a study was conducted which found that patients with a family history of MDS, AA, and AML need or require screening for GATA2, a gene that, when mutated, often leads to these diseases. GATA2 controls the production of blood, Townsley explains. When it is impaired, bone marrow disorders can occur.

It can be difficult to distinguish a patient with a GATA2 deficiency that is related to MDS, because some patients do not have a strong family history of these diseases. Also, some patients may not have key physical exam findings, Townsley adds.