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)

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 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)

American College of Medical Genetics:

ACMG Guidelines for variant interpretation and classification 

ACMG Factor V Leiden 

ACMG Issues in testing Children 

ACMG MTHFR 

ACMG Clinical utility of genetic and genomic services 

Additional Resources:

Pedigree Nomenclature 

Guidelines for Consanguineous Couples  

Find a genetic counselor:  www.nsgc.org