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Genetic and Rare Diseases Information Center (GARD)

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Protein S deficiency

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Overview


Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding.  Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulated normally and affected individuals have an increased risk of forming a blood clot called a thrombosis.  People at risk to have protein S deficiency are those with an individual or family history of multiple blood clots in the veins.  Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.[1]

References

  1. Congenital protein C or S deficiency. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000559.htm. Accessed March 4, 2013.
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General Information

  • Genetics Home Reference (GHR) contains information on Protein S deficiency. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • The National Heart, Lung, and Blood Institute (NHLBI) can provide information on this topic. You can reach them by calling 301-592-8573 or by E-mail at nhlbiinfo@nhlbi.nih.gov
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Protein S deficiency. Click on the link to view a sample search on this topic.
  • The National Hemophilia Foundation has an information page on clotting disorders, including protein S deficiency. Click on the National Hemophilia Foundation link to view this page.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Protein S deficiency. Click on the link to go to OMIM and review these resources.