Conditions / Genetic
congenital amegakaryocytic thrombocytopenia 2
info · Genetic
A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27.
Signs and symptoms
- Aplastic anemia
- Anemia
- Bone marrow hypocellularity
- Thrombocytopenia
- Pancytopenia
- Decreased total neutrophil count
- Elevated circulating alpha-fetoprotein concentration