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 (, © 1993-2018 University of Washington)

Hemophilia A

Hemophilia B

Ehlers Danlos Syndrome

Marfan Syndrome

Homocystinuria (thrombosis and stroke)


Loeys-Dietz Syndrome

Noonan Syndrome (factor deficiencies and platelet aggregation anomaly)

Glycogen Storage Diseases: Type IType IIIType IVType VType VI

22q11: Deletion SyndromeDuplication (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 Factor V Leiden 

ACMG Issues in testing Children 


ACMG Clinical utility of genetic and genomic services 

Additional Resources:

Inherited Platelet Disorders: An Updated Overview

Platelet Disorder Support Association: Inherited Thrombocytopenia

Pedigree Nomenclature 

Guidelines for Consanguineous Couples  

Find a genetic counselor: