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

Auteurs-es

  • Hannah Brand University of Pittsburgh, School of Dental Medicine

DOI :

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

Mots-clés :

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

Résumé

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.

Références

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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.

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Publié-e

2017-06-14

Numéro

Vol 5, No 1 (2017)

Rubrique

Adults & the Elderly

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