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APLASTIC ANEMIA / THROMBOCYTOPENIA

 
  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.   

 

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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).   

 

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Cartilage Hair Hypoplasia

 

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

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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.   

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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.    

 

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Schwachman-Diamond Syndrome

 

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

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