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Am J Hematol. 2007 Jul;82(7):661-2.

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

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1
Division of Hematology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA.

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.

PMID:
17160994
DOI:
10.1002/ajh.20839
[Indexed for MEDLINE]
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