The risk of developing MDS or another form of AML is around 70%. If diseases of the blood system and immune system are lumped together, it can be said that 90% of all mutation carriers will suffer from at least one manifestation by the age of 60.
The average age when MDS or AML manifests is 20 years, with an age range of 12 to 35 years.
In addition to malignant diseases, a GATA2 mutation can also bring about diseases of the immune system, since the body is lacking important immune cells, resulting in bacterial, viral, or fungal infections, some of them severe, which can affect different organs.
Moreover, the following clinical and genetic anomalies may occur: