A second case of prothrombin Puerto Rico I in the United States

Am J Hematol. 2007 Jul;82(7):661-2. doi: 10.1002/ajh.20839.

Abstract

Prothrombin deficiency is a very rare autosomal recessive bleeding disorder associated with mild to severe bleeding symptoms. We identified this bleeding disorder in a US-born patient as due to prothrombin Puerto Rico I. Unlike other prothrombin deficiencies, prothrombin Puerto Rico I is a series of concordant polymorphisms found in people of Puerto Rican descent with a much higher frequency than those prothrombin deficiencies found in the general population. This case underscores the importance of family history in identifying rare bleeding disorders.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Hypoprothrombinemias / enzymology*
  • Hypoprothrombinemias / genetics
  • Hypoprothrombinemias / pathology*
  • Middle Aged
  • Mutation / genetics
  • Prothrombin / classification
  • Prothrombin / genetics*
  • Prothrombin / metabolism*
  • United States

Substances

  • Prothrombin