Bleeding Disorders

Hemophilia

Hereditary Hemophilia

Hemophilia is a group of hereditary and occasionally acquired coagulation disorders caused by a deficiency of various clotting factors (due to genetic mutations). Hemophilia A results from a deficiency of clotting factor VIII, hemophilia B from a deficiency of factor IX, and hemophilia C from a deficiency of factor XI. The disease manifests with bleeding episodes, which may be spontaneous (depending on the severity) or triggered by minor or major trauma. Management and care are aimed at preventing hemorrhage and joint damage, as well as treating bleeding episodes.

Statistics

Hemophilia A: Predominantly affects males (inherited in an X-linked recessive manner). Occurs in approximately 1 in 5,000 live male births and accounts for about 80% of all hemophilia cases.

Hemophilia B: Also affects predominantly males (inherited in an X-linked recessive manner). Also known as “Christmas disease.” Occurs in approximately 1 in 30,000 live male births. Clinically indistinguishable from hemophilia A.

Hemophilia C: Affects both males and females equally and may be inherited in an autosomal recessive or autosomal dominant manner due to mutations. Prevalence is about 1 in 1,000,000. More common among Ashkenazi Jews and typically associated with moderate bleeding, especially after surgical interventions.

Acquired Hemophilia

About 30% of patients with hemophilia do not inherit the condition from their parents. It may arise due to a new mutation, termed sporadic hemophilia. Acquired hemophilia develops when immune-mediated autoantibodies (inhibitors) are formed against clotting factors (most often factor VIII). Approximately 50% of cases are idiopathic; however, it may also occur secondary to autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, multiple sclerosis, Sjögren’s syndrome, and inflammatory bowel disease. Other predisposing conditions include major trauma and pregnancy.

Clinical Features of Hemophilia A and B

Most characteristic: joint bleeding (hemarthroses), which, without adequate treatment, can lead to chronic arthropathy.

Muscle and soft tissue hemorrhages.

Internal bleeding: hemothorax, intra-abdominal, and retroperitoneal hemorrhages.

Hematuria and other mucosal bleeding: epistaxis, gingival bleeding, gastrointestinal, and esophageal hemorrhage.

Intracranial hemorrhage: central nervous system bleeding is rare but may result from minimal trauma and remains one of the leading causes of mortality in hemophilia patients.

Severity and Onset

The disease is classified as mild, moderate, or severe based on the level of the clotting factor.

Mild and moderate forms: Often diagnosed after surgery or trauma. The average age of presentation is after 10 months, when the child begins to crawl or walk.

Severe forms:

At birth: intracranial hemorrhage or cephalohematoma during vaginal delivery.

At 1–10 days: prolonged bleeding after circumcision.

At 1–4 weeks: prolonged umbilical stump bleeding.