What is the NCI IBMFS Cohort and Who is Eligible?

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The NCI IBMFS Cohort consists of affected individuals and their immediate families in North America who have an inherited bone marrow failure syndrome (IBMFS), either one that has been specifically identified and defined, or bone marrow failure which appears to be inherited but has not yet been clearly identified as having a genetic basis. A cohort is a group of carefully defined and thoroughly evaluated study participants which is followed over time to analyze the medical events which occur in each person.

The most common of the IBMFS are:

• Amegakaryocytic Thrombocytopenia
  
• Diamond-Blackfan Anemia
  
• Dyskeratosis Congenita
  
• Fanconi Anemia
  
• Pearson Syndrome
  
• Severe Congenital Neutropenia
  
• Shwachman-Diamond Syndrome
  
• Thrombocytopenia Absent Radii
  
• Other Bone Marrow Failure Syndromes

There will be two subgroups of study participants in the NCI IBMFS Cohort: those who are seen and evaluated at the NIH Clinical Center (called the CC IBMFS Cohort), and those who participate by providing information but who are not seen by the NCI team at the NIH (called the Field IBMFS Cohort).