title: A second case of prothrombin Puerto Rico I in the United States.
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.
authors.affiliation: Division of Hematology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Kling
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Jones
authors.forename: George M
authors.initials: GM
authors.lastname: Rodgers
mesh_terms: D005260:Female; D006801:Humans; D007020:Hypoprothrombinemias / Q000201:enzymology* / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011516:Prothrombin / Q000145:classification / Q000235:genetics* / Q000378:metabolism*; D014481:United States
chemical_list: D011516:Prothrombin