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)
Glycogen Storage Diseases: Type I, Type III, Type IV, Type V, Type VI
22q11: Deletion Syndrome, Duplication (lymphopenia, t-cell abnormalities, thrombocytopenia)
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)
RUNX1 Research Program (RUNX1 familial platelet disorder)
RUNX1 NIH Registry (This registry, run by the NIH, is a “natural history study” for patients with RUNX1 familial platelet disorder, meaning it incorporates both genotypic and phenotypic patient data in order to derive meaningful associations for the development of prevention, management and treatment strategies.
SCH PLUGS Program PLUGS® (Patient-centered Laboratory Utilization Guidance Services) is a laboratory stewardship collaborative with a mission to improve laboratory test ordering, retrieval, interpretation and reimbursemen
American College of Medical Genetics:
ACMG Guidelines for variant interpretation and classification
ACMG Issues in testing Children
ACMG Clinical utility of genetic and genomic services
Inherited Platelet Disorders: An Updated Overview
Platelet Disorder Support Association: Inherited Thrombocytopenia
Guidelines for Consanguineous Couples
Find a genetic counselor: www.nsgc.org