A second case of prothrombin Puerto Rico I in the United States.
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.
Kling
Stephen J
SJ
Division of Hematology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA.
Jones
Kimberly A
KA
Rodgers
George M
GM
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
D011516:Prothrombin