Potential inheritance patterns of a prothrombin gene mutation in a 23-year-old female and ethical considerations of a positive diagnosis: a case report

Hannah Brand


Background: Prothrombin, also called Factor II, is a blood clotting protein found in all individuals that is necessary to form blood clots. In most individuals, a balance between bleeding and blood clot formation occurs. However, in individuals with a mutation in the prothrombin gene, the balance is disrupted due to excess production of prothrombin which leads to an increase in blood clot formation (1). Inherited predispositions to blood clot formation are termed hereditary thrombophilia. Prothrombin G20210A mutations are one of the most common hereditary gene associations. Case Description: This report examines the case of a 23-year-old female who has tested positive for the prothrombin gene mutation. The individual has an extensive history of blood clots including 8 deep vein thromboses (DVTs), 4 pulmonary embolisms with one complete infarction, 4 superficial clots, and a miscarried pregnancy attributed to her thrombophilia. The individual has a significant family history of the mutation and takes Coumadin daily for prevention of further clots. Practical and Ethical Implications: Despite a strong familial history of blood clots and related hospitalizations, the parents of the case individual do not want to get their other children tested for the mutation for fear that the children will be denied insurance coverage in their futures. The case individual will likely continue to be on blood thinners indefinitely. This will affect many aspects of her life, including dental treatment, as she will be at an increased risk for bleeding.


Prothrombin; mutation; hereditary hemophilia; clotting factor; bleeding disorder

Full Text:



Prothrombin 20210 Mutation (Factor II Mutation); Varga EA, Moll S; Circulation; 2004, July;110(3):e15-8. PMID: 15262854.

Yagiela, Dowd, Johnson, et al (2011) Pharmacology and Therapeutics for Dentistry. St. Louis: Mosby Elsevier. 504 p.

Lentz, SR; University of Iowa Hospitals and Clinics; 2005. [cited 2017 Mar 15]. Availa-ble from https://www.healthcare.uiowa.edu/labs/lentz/Information_For_Patients/PDF/Prothrom-bin%20Gene%20Mutation%20Brochure.pdf

Homozygotes for prothrom-bin gene 20210 A allele in a thrombophilic family without clinical manifestations of ve-nous thromboembolism; Sou-to JC, Mateo J, Soria JM, et al.; Haematologica; 1999; 84(7):627-32. PMID: 10406905.

Genetics Home Reference; National Institute of Health; U.S. National Library of Medi-cine; 2008. [cited 2017 Mar 26]. Available from


Anticoagulants; The Johns Hopkins Lupus Center; 2017. [cited 2017 Mar 26]. Availa-ble from https://www.hopkinslupus.org/lupus-treatment/common-medications-conditions/anticoagulants/

Anticoagulant and Antiplate-let Medications and Dental Procedures; The American Dental Association; 2015. [cited 2017 Mar 28] Available from http://www.ada.org/en/member-center/oral-health-topics/anticoagulant-antiplatelet-medications-and-dental-

Genetic Information Nondis-crimination Act; U.S. Depart-ment of Health and Human Services; 2017. [cited 2017 Mar 28]. Available from https://www.hhs.gov/hipaa/for-professionals/special-topics/genetic-information/index.html

DOI: https://doi.org/10.5195/d3000.2017.69


  • There are currently no refbacks.