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Hemophilia

About hemophilia in children

Hemophilia is a rare inherited bleeding disorder caused by deficiency of coagulation (clotting) factor VIII (hemophilia A), factor IX (hemophilia B) or factor XI (hemophilia C).

Hemophilia A and B are X-linked disorders and predominantly affect boys.

  • Hemophilia A is the most common and occurs in approximately 1/5000 live male births.
  • Hemophilia B occurs in 1/15,000-1/30,000 live male births.
  • About 2/3 of the time there is a known family history of “free bleeders” in males on the maternal side of the family.

What are the types of hemophilia?

  • Hemophilia A: An inherited bleeding disorder caused by insufficient levels of a blood protein called factor VIII (factor 8 [F8]), which is a clotting factor. It is an X-linked recessive disorder.
  • Hemophilia B (Christmas disease):  An inherited bleeding disorder that affects children who have insufficient levels of a blood protein called factor IX (factor 9 [F9]). It is an X-linked recessive disorder.
  • Hemophilia C (Rosenthal syndrome): An inherited deficiency of a blood protein called factor XI (factor 11). This is an autosomal recessive disorder.  

Hemophilia is characterized as mild, moderate or severe, based on baseline factor activity levels. A factor activity blood test lets your doctor evaluate the functioning of a protein that helps blood to clot.

  • Severe hemophilia is defined as factor activity level of <1 percent
  • Moderate hemophilia is defined as a factor activity level ≥1 percent of normal and ≤5 percent of normal
  • Mild hemophilia is defined as a factor activity level >5 percent of normal and <40 percent of normal

What are the symptoms of hemophilia?

Patients with hemophilia are often referred to as “free bleeders” because it takes the blood longer to clot. Bleeding may occur anywhere on your body. People with severe disease may have “spontaneous” bleeds without obvious trauma.

Symptoms of hemophilia in infants

  • Common sites of bleeding in newborns include the central nervous system (bleeds in the brain sometimes associated with traumatic delivery) or extracranial sites such as cephalohematoma.
  • Medical interventions such as circumcision, heel sticks, immunizations and blood draws.
  • Mothers with a family history of hemophilia should alert their obstetrician.

Symptoms of hemophilia in children

  • Bruising
  • Joint bleeds, and other sites of musculoskeletal bleeding become more common once children begin walking
  • Frenulum and oral injuries
  • Forehead hematomas ("goose-eggs")

Symptoms of hemophilia in older children and adults

  • Common sites of bleeding in older children and adults include joints, muscles, central nervous system, and oral or gastrointestinal tract.  
  • Since hemophilia is an x-linked disorder, women may be carriers of the gene. This means that they can have lower factor levels as well, although usually have much milder symptoms. Heavy menstrual bleeding may occur.

Complications of hemophilia

Complications are grouped in two categories.

  • Complications related to bleeds: Intracranial or intraspinal bleeds can be especially serious. Education and prophylactic therapy are essential in the management/prevention of these bleeds.
  • Complications related to therapy: These include the development of inhibitors (antibodies to the factor infused), rare allergic reactions and infections at infusion sites.

Causes of hemophilia

Hemophilia is an inherited genetic disorder. About two-thirds of the time there is a known family history.

However, spontaneous mutations are also known to occur. In very rare cases, the body may develop antibodies to clotting factors. This is known as acquired hemophilia and is almost never seen in children.

Risk factors that will help our providers know to test for hemophilia include:

  • If there is a known family history, the mother may get prenatal testing.
  • If there is a known family history and the infant is a male, there is a 50% chance that the baby may have hemophilia A or B. Cord blood can be tested immediately and procedures such as circumcision should be avoided until results are known.
  • If there is no family history, but delivery is complicated by bleeding in the brain, large cephalohematomas, large hematomas with newborn immunizations or unexpected bleeding with circumcision, the diagnosis of hemophilia can be considered.

How is hemophilia diagnosed?

  • Hemophilia is diagnosed with clotting tests performed on a blood sample or on cord blood in a neonate.
  • Genetic testing is also available.

How is hemophilia treated?

There is currently no known cure for hemophilia. Treatment of hemophilia depends on the severity of the disease and falls into one of two categories:

  • Treatment of acute bleed and prophylaxis to prevent bleeding. Acute bleeding is almost always treated with infusion of the missing clotting factor.
  • Newer “targeted” agents such emicizumab are also available.

We offer individualized treatment plans as well as the teaching of home infusion techniques. Our program is also actively involved in clinical trials of newer treatment options such as gene therapy.

Learn more about our comprehensive hemophilia program