Clinicians may be unaware that their patient’s phenotype represents a characteristic of an underlying genetic condition. This section can assist in the correct identification and diagnosis of a condition that may otherwise be unknown or overlooked. Some of these conditions and their associated hematologic complications, especially among female patients during various stages of their lives, can present a clinical challenge to providers.
The following topics provide clinicians with resources regarding potential genetic syndromes associated with underlying bleeding diatheses or coagulopathies.
Gene Reviews (www.genereviews.org, © 1993-2018 University of Washington)
Homocystinuria (thrombosis and stroke)
Noonan Syndrome (factor deficiencies and platelet aggregation anomaly)
Gaucher Disease (functional platelet anomalies that can lead to bleeding, even with normal platelet count)
Organic Acidemias (bone marrow suppression during metabolic crisis with anemia and low platelets)
American College of Medical Genetics:
Find a genetic counselor: www.nsgc.org