20-Year study to track rare bone marrow diseases

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* INCLUSION CRITERIA: To be eligible to participate in this study, an individual must meet all of the following criteria. Subjects and their family members who undergo screening but ultimately do not meet criteria for cohorts 1-5 will be removed from the study. Subjects may forgo screening and sign directly onto cohorts 1-5 if they meet criteria based on either prior NIH testing or external examinations. Family members will only be asked to be screened for participation onto this study after confirmation of eligibility by an affected participant. Cohorts 1-4 * Age \>=2 years * Diagnosis of acquired or inherited bone marrow failure or ineffective hematopoiesis or TBD (see below for cohort 3 specific criteria) * Ability and willingness to come to the NIH CC for consultation and testing * Ability of subject or Legally Authorized Representative (LAR) to understand the investigational nature of the protocol and their willingness to sign a written informed consent document. * For cohort 3 - TBD: Presence of a pathogenic, likely pathogenic, or known family mutation in a telomere maintenance gene OR If mutation negative or VUS, telomere length \<10th percentile in lymphocytes with at least two clinical features: 1) cytopenia (Hb \<10g/dL or ANC \<1.5x10\^9 or platelets \<100), 2) documented liver fibrosis by histology OR abnormal liver US / fibro scan consistent with fatty liver or fibrosis), 3) documented pulmonary fibrosis by histology / radiology OR PFTs showing FEV1 \<80% or DLCO \<60%, 4) family history of: marrow failure, myeloid malignancy, liver fibrosis or lung fibrosis. Cohort 5 * Age \>= 2 years * First degree family member with a known or suspected inherited bone marrow failure syndrome from a patient enrolled on this or another NIH protocol as determined by a PI or AI * Ability and willingness to safely provide blood, buccal swab, or fibroblasts for testing as stated by subject * Ability of subject or Legally Authorized Representative (LAR) to understand the investigational nature of the protocol and the willingness to sign a written informed consent document. EXCLUSION CRITERIA: -None