Homozygous protein C deficiency with moderately severe clinical symptoms

Thrombosis Research
C SharonG Mariani

Abstract

We report a large family with two members homozygotes for protein C deficiency, with activity levels of 5% and 9%. Thirteen additional members were heterozygotes, with protein C activity ranging from 36-66% and equally low levels of protein C antigen. The homozygotes presented with recurrent deep-vein thromboses and pulmonary emboli, but have reached the ages of 26 and 37 years. Hence, protein C levels of 5% appear sufficient to avoid life-threatening clinical symptoms in the neonatal period.

References

Dec 15, 1984·Thrombosis Research·C BoyerM J Larrieu
Nov 10, 1984·British Medical Journal·M H HorellouM Samama
Mar 1, 1984·The New England Journal of Medicine·U SeligsohnS I Rapaport
Sep 1, 1984·The Journal of Pediatrics·R H SillsJ R Humbert
Aug 11, 1983·The New England Journal of Medicine·A W BroekmansR M Bertina
Nov 1, 1981·The Journal of Clinical Investigation·J H GriffinC Wideman

❮ Previous
Next ❯

Citations

May 1, 1991·Annals of Hematology·V De StefanoB Bizzi
Aug 31, 1991·Lancet·C B GrundyD N Cooper
Oct 1, 1989·Baillière's Clinical Haematology·G DolanF E Preston
Oct 31, 2002·British Journal of Haematology·Michael D WilliamsUNKNOWN Haemostasis and Thrombosis Task Force, British Committee for Standards in Haematology
Jun 24, 1998·The Journal of Clinical Investigation·S R CaiK P Ponder
Apr 1, 1992·Baillière's Clinical Haematology·A C Nathwani, E G Tuddenham
Nov 21, 1997·Journal of the American Academy of Dermatology·E BaselgaN B Esterly
Jan 29, 1999·Hematology/oncology Clinics of North America·W Streif, M E Andrew
Jan 1, 1990·Pediatric Hematology and Oncology·P PetriniN Egberg
Mar 1, 1988·Blood Reviews·P M Mannucci, A Tripodi

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.

Related Papers

British Journal of Haematology
E Melissari, V V Kakkar
British Journal of Haematology
A Omer, M Ziada
Transactions of the Royal Society of Tropical Medicine and Hygiene
J E Cooper
© 2021 Meta ULC. All rights reserved