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).