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A second case of prothrombin puerto rico I in the united states
Author(s) -
Kling Stephen J.,
Jones Kimberly A.,
Rodgers George M.
Publication year - 2007
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20839
Subject(s) - puerto rican , medicine , prothrombin complex , prothrombin time , population , prothrombin complex concentrate , pediatrics , coagulation , ethnology , warfarin , history , environmental health , atrial fibrillation
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. Am. J. Hematol 2007. © 2006 Wiley‐Liss, Inc.