What causes hemophilia?
Hemophilia results from a congenital deficiency of clotting proteins called factors. Most often, hemophilia refers to deficiencies of factor VIII (hemophilia A) or factor IX (hemophilia B); a factor VIII deficiency is four times more common. Deficiencies of these clotting proteins lead to delayed clot formation and easy bleeding because the clot is soft and unstable. As a result, significant blood loss can occur.
How many people are diagnosed?
The incidence of hemophilia worldwide is estimated to occur in 1 in 7,500 male births. The vast majority of patients are male because hemophilia is linked to the X chromosome, but girls can have hemophilia as well.
What are the signs and symptoms?
Infants often present with excessive bleeding after heel sticks, circumcision or excessive bleeding associated with birth trauma. Older children can present with easy bruising, large bruises with mild trauma, mouth or nose bleeding, joint and muscle bleeding with or without trauma, and rarely, bleeding in the brain.
How is a diagnosis made?
Fetal testing can be done if the mother is a known carrier, but the test is not universally available. Neonatal testing is indicated if the mother is a known carrier and can be done using a specimen from cord blood immediately after delivery. If there is no family history, patients suspected of having hemophilia can be identified initially by having an abnormal aPTT (activated partial thromoplastin time), and the diagnosis can be confirmed by a blood sample tested for factor VIII or factor IX activity.
Once hemophilia is diagnosed (or suspected), a referral to a federally designated hemophilia treatment center (HTC), such as Rady Children’s Hospital-San Diego, should be made. Treatment at HTCs has been shown to increase survival and reduce bleeding-related hospitalizations.
How severe can it be?
Hemophilia can be mild, moderate or severe depending on the blood level of clotting factor. Patients with mild hemophilia A or B have 5-30 percent of clotting factor activity and usually only bleed excessively after trauma or surgery. Moderate hemophilia patients have 1-5 percent of factor VIII or factor IX activity and can have excessive bleeding after minor trauma or minor surgery. Patients with severe hemophilia have essentially no measurable level of factor VIII or actor IX and have spontaneous bleeding into their joints and muscles or excessive bleeding after minor trauma or surgery. Recurrent bleeding into joints can result in progressive joint damage and potentially lead to significant disability.
What is the treatment?
Treatment for bleeding, which should begin as soon as possible, involves replacing the deficient factor as the first course of action. Intravenous recombinant factor concentrates are available for deficiencies of both factor VIII and factor IX. Patients with mild factor VIII deficiency can sometimes be managed with desmopressin (DDAVP). Specific doses, additional drugs and medical interventions depend upon the site and severity of the bleeding. Extremity and joint bleeding should be treated with factor concentrates as directed, as well as RICE (rest, ice, compression and elevation).
Should families always have clotting factor with them?
Families should keep clotting factor on hand at all times and bring factor with them to the doctor’s office or emergency room. Families should also carry their emergency room card with their child’s diagnosis and treatment plan. Prior to going to the emergency room, families should call the hemophilia treatment center or the after-hours hematologist on call, so we can notify the emergency room and plan dosing and treatment.