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Signs & Symptoms Of Hemophilia
Hemophilia is an inherited coagulation disorder that causes abnormal exaggerated bleeding. It is a sex linked disorder and has 2 types: Hemophilia A and Hemophilia B. Hemophilia A is also known as classic hemophilia and is due to inherited deficiency of clotting factor VIII. Other name of hemophilia B is Christmas disease and it occurs due to inherited deficiency of factor IX.
Hemophilia A is more common than Hemophilia B. Hemophilia is inherited as X-linked recessive trait, therefore it manifests clinically in males and females are carriers of the disease. Hemophilia is also called as Royal Disease because Queen Victoria was carrier of this bleeding disorder.
Signs and Symptoms of Hemophilia
Hemophilic patients suffer from bleeding for hours or days after injury. Bleeding can involve any organ but occurs most commonly into the muscles and the joints. Clinical presentation of hemophilia A and hemophilia B is similar. Signs and symptoms of hemophilia depend upon activity of clotting factors VIII and IX. Severity of disease is dependent on severity of clotting factor deficiency. Hemophilia can be mild, moderate or can be severe.
Mild hemophilics have level of affected clotting factor more than 10 percent and may be even up to 50 percent. They usually bleed after major surgery or trauma and may not even be diagnosed until they are adolescents.
Activity of affected clotting factors is more than 2 percent in moderate hemophilia. Moderate hemophilia is usually diagnosed after 6 months of birth because there is no physical activity during initial months. Bleeding episodes occur following minor injury or surgery.
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Clotting factor level is less than 2 percent in severe hemophilia. Severe hemophilics are diagnosed at birth because of exaggerated abnormal bleeding. Severe bleeding into joints and muscles occur in this condition. Bleeding into joints is called as hemarthrosis and bleeding into muscles is called as hematomas.
Spontaneous bleeding into the joints produces pain, swelling and tenderness of the joints. Most commonly affected joints are hip joint, knee joint and ankle joint which are weight bearing joints. Elbow and wrist joints are also affected. Recurrent joint bleeding can also cause disorganization of joints. In case of joint destruction, joint replacement surgery may be required.
Bleeding may arise in any muscle in hemophilia. Muscle bleeding if not controlled can damage the nearby tissues. For instance, spontaneous bleeding into psoas muscle located deep in belly can cause numbness of thighs by affecting the nerves and can also lead to weakness of muscles.
Bleeding into joints and muscles is common but it can also occur from mouth, nose, urinary or gastrointestinal tract. Abnormal bleeding during baby teeth exfoliation is seen in young hemophilic children. Blood in urine or stools is common. A severe hemophilic may have one or two bleeds every week. The most feared site of bleeding in a hemophilic patient is bleeding from central nervous system. Bleeding from brain or skull is called as intracranial bleeding and can be fatal. Level of clotting factor VIII and IX is determined by genetics so severity of this coagulation disorder doesn’t change with time.
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