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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Prothrombin thrombophilia


Other Names for this Disease
  • Factor II-related thrombophilia
  • Hyperprothrombinemia
  • Prothrombin 20210G>A thrombophilia
  • Prothrombin G20210A thrombophilia
  • Prothrombin-related thrombophilia
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Inheritance


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How is prothrombin thrombophilia inherited?

Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. The mutation in the F2 gene that causes prothrombin thrombophilia is called 20210G>A (also called the 20210G>A allele).[1] An individual can be heterozygous (having the mutation in only one copy of the F2 gene) or homozygous (having a mutation in both copies of the F2 gene). Heterozygosity results in an increased risk for thrombosis; homozygosity results in more severe thrombophilia and/or increased risk for thrombosis.[1]

All individuals reported to date with prothrombin thrombophilia who are heterozygous for the 20210G>A allele have had an affected parent. Because of the relatively high prevalence of this allele in the general population, occasionally one parent is homozygous or both parents are heterozygous for this allele.[1]

When an individual who is heterozygous for the 20210G>A allele has children, each child has a 50% (1 in 2) risk to inherit that allele and also be heterozygous. An individual who is homozygous will always pass one of the 20210G>A alleles to each of his/her children. If two heterozygotes have children together, each child has a 25% (1 in 4) risk to be homozygous (having 2 mutated copies), a 50% risk to be heterozygous like each parent, and a 25% risk to inherit 2 normal copies of the F2 gene.
Last updated: 4/10/2013

References
  1. Jody L Kujovich. Prothrombin-Related Thrombophilia. GeneReviews. March 29, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1148/. Accessed 4/9/2013.