Hemophilia: A-to-Z Guide from Diagnosis to Treatment to Prevention

The old rabbis of the Jewish Talmud stated that when a mother had lost two boys from bleeding to death during circumcision, any boys that she might have afterward should not be subjected to the operation. The rabbis of antiquity seem to have known that abnormal bleeding can be hereditary. They may have known it can be transmitted through the mother and through her daughters. Lore suggests they even knew that the son, who might be a bleeder himself, will not transmit it to his sons.

What is it?

Hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency) are both hereditary bleeding disorders caused by insufficient amounts of one of the clotting factors needed to stop bleeding. Hemophilia A and B are the two most common clotting factor deficiencies.

Who gets it?

Hemophilia runs in families. It can occur in any ethnic group. It is passed on the X-chromosome. If a mother (XX) is a carrier, about half of her daughters will be carriers and about half of her sons will have the disease. If a father (XY) has the disease, about half of his daughters will be carriers; his sons will be unaffected. Boys without the disease cannot be carriers. Sometimes girls who are carriers will have low enough factor levels to have some symptoms. However, girls generally have only mild or moderate symptoms.

What are the symptoms?

Abnormal bleeding is the main symptom of hemophilia. The severity of the symptoms depends on an individual’s clotting factors levels.

Some boys with hemophilia are born with bleeds. Prolonged or excessive bleeding from circumcision can be the first sign of hemophilia, but almost 2/3 of boys with hemophilia won’t have noticeable bleeding at circumcision. Some will show large bruises with vaccinations and others will show bruises from falls associated with learning to crawl and walk.

The main symptom of hemophilia is usually bleeding into the joints. This is usually noticeable in the ankle by the time a toddler starts toddling. Easy bruising, bleeding into muscles, and prolonged bleeding from cuts in the mouth are other common symptoms.

In teenagers and adults, these joint bleeds can cause early arthritis.

Is it contagious?

No

How long does it last?

This is a lifelong condition.

How is it diagnosed?

Hemophilia may be suspected based on the history, family history, and physical exam. Blood tests can clinch the diagnosis.

How is it treated?

Hemophilia is treated by giving replacement doses of the deficient factor and/or by giving medicine to raise factor levels. Aspirin and other medicines that decrease clotting should be avoided, and care should be taken to minimize trauma.

Transfusions are sometimes necessary, so immunization to prevent blood borne infections is especially important for these children.

Researchers are studying gene therapy or liver transplantation as a treatment for hemophilia.

How can hemophilia be prevented?

Once a baby is conceived, the baby either does or does not have hemophilia. Complications of hemophilia can often be prevented with preventive doses of factor products.

Related concepts:

Bleeding disorders, Factor VIII deficiency.