Aplastic Anemia/ Thrombocytopenia
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 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 patients can develop bone marrow failure with pancytopenia.
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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 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 is characterized by bone marrow failure / pancytopenia (with neutropenia), pancreatic insufficiency and metaphyseal chondrodysplasia.