Sandbox GGC6
From Proteopedia
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== Disease == | == Disease == | ||
| - | Congenital afibrinogenemia (CAFBN) | + | '''Congenital afibrinogenemia (CAFBN)''' |
This is an inherited blood disorder where the blood does not clot normally. This disease is caused by truncating mutations. Changing in position Arg-35 when Thrombin cleaves the site of Fibrinopeptide leads to alpha- Dysfibrinogenemias. <ref>doi: 10.1160/TH14-07-0629</ref> | This is an inherited blood disorder where the blood does not clot normally. This disease is caused by truncating mutations. Changing in position Arg-35 when Thrombin cleaves the site of Fibrinopeptide leads to alpha- Dysfibrinogenemias. <ref>doi: 10.1160/TH14-07-0629</ref> | ||
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| + | Nosebleeds, bleeding from the gums and tongue are commons after a minor trauma for people with this disease. bleedings in the brain and internal organs can occur for affected individuals which can lead to be fatal. However, it's rare. | ||
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Women with this disease can experience an abnormal heavy menstrual bleeding, they could also have a difficult time carrying a pregnancy, and could result in miscarriages. | Women with this disease can experience an abnormal heavy menstrual bleeding, they could also have a difficult time carrying a pregnancy, and could result in miscarriages. | ||
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| + | Newborn with this disease can experience bleeding from the umbilical cord stump after birth. | ||
The treatment for this disease includes cryoprecipitate, fibrinogen, and plasma (contains clotting factors). | The treatment for this disease includes cryoprecipitate, fibrinogen, and plasma (contains clotting factors). | ||
Revision as of 19:40, 13 November 2020
Fibrinogen alpha chain
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References
- ↑ Hanson, R. M., Prilusky, J., Renjian, Z., Nakane, T. and Sussman, J. L. (2013), JSmol and the Next-Generation Web-Based Representation of 3D Molecular Structure as Applied to Proteopedia. Isr. J. Chem., 53:207-216. doi:http://dx.doi.org/10.1002/ijch.201300024
- ↑ Herraez A. Biomolecules in the computer: Jmol to the rescue. Biochem Mol Biol Educ. 2006 Jul;34(4):255-61. doi: 10.1002/bmb.2006.494034042644. PMID:21638687 doi:10.1002/bmb.2006.494034042644
- ↑ Iwaki T, Castellino FJ. Maternal fibrinogen is necessary for embryonic development. Curr Drug Targets. 2005 Aug;6(5):535-9. doi: 10.2174/1389450054546006. PMID:16026273 doi:http://dx.doi.org/10.2174/1389450054546006
- ↑ Asselta R, Plate M, Robusto M, Borhany M, Guella I, Solda G, Afrasiabi A, Menegatti M, Shamsi T, Peyvandi F, Duga S. Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. Thromb Haemost. 2015 Mar;113(3):567-76. doi: 10.1160/TH14-07-0629. Epub 2014 Nov , 27. PMID:25427968 doi:http://dx.doi.org/10.1160/TH14-07-0629
