Sandbox GGC6: Difference between revisions
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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> | ||
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. | |||
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. | |||
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). | |||