The Enid News and Eagle, Enid, OK

Enid Features

March 26, 2013

Hemophilia: Stop the bleeding ...

Mindy was worried about the large bruises that kept showing up on her young son’s body, as he was becoming mobile and taking his first steps. “Is that normal?” she asked her doctor.    

It was, of course, not normal but rather the early signs of hemophilia, a bleeding disorder. Moderate to severe cases are typically diagnosed early in life, usually before the child’s sixth birthday and often in the first year. Mild cases may go unnoticed until later in life, but still require a doctor’s attention.    

People born with hemophilia have little or none of a protein that is essential to the clotting process and, as a result are vulnerable to excessive and unwanted bleeding.    

While you may remember a popular image of a hemophiliac bleeding to death from a small cut, that rarely happens. In most cases, the clotting deficiency is not total, and there are varying degrees of the disorder. Nevertheless, hemophilia is a lifelong disease without a cure, and, in addition to the risk of excessive bleeding, it often causes disabling effects to the joints, muscles and internal organs. Severe trauma can be life threatening.    

Because of their need for frequent transfusions of blood products, hemophiliacs were at high risk of HIV infections, before more effective blood screening was initiated in the mid-1980s. A person needing frequent transfusions is at greater risk of infections.    

Hemophilia A, the most common kind, involves a deficiency of clotting factor VIII. It occurs in about 1 of every 5,000 to 10,000 male births. Hemophilia B, involving a deficiency of clotting factor IX, occurs in about 1 of every 20,000 to 30,000 male births. There also is a hemophilia C (clotting factor XI).     

Inheritance of hemophilia typically passes from mother to son. That’s because the hemophilia gene is recessive and located on the X chromosome. Females inherit an X chromosome from each parent, while males inherit an X chromosome from the mother and a Y chromosome from the father. Hemophilia can also be acquired through a gene mutation.    

A similar bleeding disorder, with different inheritance patterns, is von Willebrand disease. Vitamin K deficiency, common in babies, can also present similar short-term symptoms. Vitamin K is necessary for the production of some clotting factors, and infants do not yet have enough gut flora to properly synthesize vitamin K. It can be avoided by injecting newborns with vitamin K.    

If there is a family history of hemophilia, it’s possible to test the fetus, but that kind of testing carries risks as well as benefits. Typically, the disease is not diagnosed until signs of bleeding or bruising are observed in the first year or two of life.    

Small cuts are rarely a problem, although they may take longer to heal. Surgery and dental work require special precautions.     

The most frequent damaging effect is bleeding into joints, causing swelling, pain and eventually deterioration of joints. It’s important for persons with hemophilia to keep their joints and muscles strong and flexible.      

Hemophiliacs must avoid blood thinners such as aspirin and other NSAIDs, Pradaxa, heparin, warfarin and supplements such as ginkgo biloba.    

Boys with hemophilia are usually advised not to ride a motorcycle or take part in contact sports such as football, wrestling and hockey. Since these sports can be culturally and socially important to youth, some doctors have argued against heavy restrictions.    

Clotting factors derived from donated human blood or genetically engineered products are the major treatment for moderate to severe hemophilia. Infusions can be made either as needed or prophylactically. Regular prophylactic infusions have been found to reduce side effects, such as joint swelling, and time spent in the hospital.    

Hemophilia is a distressing disease that requires not only specialized treatment, but an array of education and support services. These are available at comprehensive hemophilia treatment centers located throughout the United States.

Before effective treatment was developed in the 1960s, the average life expectancy for a hemophiliac was 11 years. Today, most hemophiliacs can lead a normal life, with average life expectancy shortened by an average of about 10 years.

Rupp is a certified information and referral specialist on aging for NODA Area Agency on Aging. Contact her at 237-2236.

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