(University of Washington) Mutations on a gene that regulates the transition of primitive blood-forming cells to white blood cells have been implicated in acute myeloid leukemia and in myelodysplasia, a difficulty in producing white blood cells.
Studies beyond this one link GATA2 gene mutations to other health problems, including intractable infections, to a type of developmental delay, as well as to a leukemia that causes limb swelling and deafness.
A clinical trial under way may point to treatment recommendations for those with GATA2 mutations.