Blood clotting & afibrinogenemia

Congenital afibrinogenemia or familial afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally due to the lack of Fibrinogen. Fibrinogen is a blood protein that is important and necessary for coagulation. It is considered a rare disorder due to the loss indigence of approximately 1 in 1 million newborns.

Moreover, it is an autosomal recessive, where two unaffected parents can have a child with Congenital afibrinogenemia. More specifically, Congenital afibrinogenemia results from mutations in one of the following three genes:

1. FGA – Fibrinogen alpha chain
2. FGB – Fibrinogen beta chain
3. FGG – Fibrinogen Gamma chain

Congenital afibrinogenemia is characterized by the following symptoms: 

1. Poor wound healing
2. Umbilical cord bleeding
3. Swelling, pain, or warmth around a joint
4. Inability to straighten or bend a joint normally
5. Muscle, head, or neck ache
6. Tight and shiny appearance of skin
7. Bleeding into the skin
8. Upset stomach
9. Vomit that is black and syrupy or bright red or coffee-ground in appearance
10. Difficulty with urination or bowel movements
11. Blood in the urine
12. Red- or black-colored stool
13. Drowsiness or loss of consciousness
14. Sensitivity to light
15. Weakness, tingling, or pain in the arms or legs
16. In women, heavy menstrual bleeding or recurrent miscarriage

The FDA approved some medication for Congenital afibrinogenemia

1. Human fibrinogen (Brand name: FIBRYGA)
2. Human fibrinogen concentrate, pasteurized (Brand name: RiaSTAP®)