Aplastic Anemia/ Thrombocytopenia

 

 

 

Dyskeratosis Congenita

 

Dyskeratosis Congenita patients can develop progressive bone marrow failure as a result of defective telomere maintenance.  Patients can develop anemia, thrombocytopenia, neutropenia, and combined immunodeficiency.   

 

GATA2 Deficiency

 

GATA2 Deficiency patients can develop aplastic anemia and pancytopenia.  Patients are also at risk for myelodysplasia and are at increased risk for developing myeloid leukemias (AML and CML).   

 

Cartilage Hair Hypoplasia

 

Cartilage hair hypoplasia patients can develop bone marrow failure with pancytopenia.    

 

DNA Ligase IV

 

DNA Ligase IV patients have a combined immunodeficiency, growth retardation, and bird-like facies.  In addition, pancytopenia from bone marrow failure has been described in some patients.   

 

Fanconi Pancytopenia

 

Fanconi pancytopenia is an AR inherited bone marrow failure syndrome that results in pancytopenia.  Neutropenia secondary to marrow failure occurs in 95% of patients (T and B cell immunity is normal).   Additional features include short stature, radial hypoplasia, microcephaly, renal and genital anomalies, skin hyperpigmentation, mental retardation, and characteristic facial features.    

 

Schwachman-Diamond Syndrome

 

Schwachman-Diamond syndrome is characterized by bone marrow failure / pancytopenia (with neutropenia), pancreatic insufficiency  and metaphyseal chondrodysplasia.