SNP Shot: Genomic Insights

Congenital afibrinogenemia is a bleeding condition resulting from problems with blood clotting. Blood clots are essential for stopping bleeding after injury by plugging damaged blood vessels. In individuals with congenital afibrinogenemia, this clotting process is disrupted, leading to uncontrolled bleeding. A common sign in newborns is prolonged bleeding from the umbilical cord. Frequent nosebleeds (epistaxis) and bleeding from the gums or tongue are also typical, often occurring even with minor injuries or spontaneously. Some individuals may experience bleeding into joints (hemarthrosis) or muscles (hematoma). In rare instances, bleeding can occur in the brain or other internal organs, posing a life-threatening risk. Women with this condition may experience heavy menstrual periods (menorrhagia). Without intervention, they may face challenges in maintaining a pregnancy, potentially leading to recurrent miscarriages.

Inheritance:

Congenital afibrinogenemia follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the responsible gene from both parents to develop the condition. Both parents of someone with an autosomal recessive disorder carry one copy of the mutated gene. While they usually have approximately half the normal amount of fibrinogen in their blood, they generally don't exhibit any symptoms of the condition.