Longitudinal Studies of Patient With FPDMM

Background:

Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1. People with this disease may have problems with their blood and bleed for a long time when they are injured. Researchers want to learn more about RUNX1 variants and FPD.

Objective:

To learn more about FPD in people with RUNX1 variants to lead to better diagnosis, monitoring, and treatment.

Eligibility:

People any age with a suspected or confirmed RUNX1 variant

People who have a family member with the variant

Design:

All participants will be screened with a phone call and a blood, saliva, or cheek cell sample.

Participants with a suspected or confirmed variant will have 1 visit. It will last about 2 days. They will then have visits at least once a year.

Visits will include:

* Medical history and physical exam * Blood tests or saliva sample * Possible skin biopsy: A small piece of the participant s skin will be removed. * Bone marrow aspiration or biopsy: The participant s bone marrow will be removed by needle from a large bone such as the hip bone. * Possible apheresis: Blood will be removed from the body and certain blood cells will be taken out. The rest of the blood is returned to the body.

Between visits, participants with a suspected or confirmed variant will keep a diary of disease symptoms and signs.

Samples from all participants may be used for genetic testing