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.
Clotting is a basic protective factor that keeps us from bleeding to death after a cut or from suffering an internal hemorrhage as a result of a serious injury or disease. People born with hemophilia have little or none of a protein that is essential to the clotting process.
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.
A person with hemophilia is likely to have unexplained nose bleeds, bruising and blood in the urine or stool. One of the most serious effects is bleeding into joints that causes pain, swelling and disability.
Severe trauma can be life threatening, and several members of European royal families with the disorder died after automobile accidents.
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. Even so, a person needing frequent transfusions is at greater risk of infections from HIV, hepatitis and other diseases.
Inherited from Mother
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 is also a hemophilia C (clotting factor XI) with symptoms that are usually mild.
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. As a result, females are carriers but can get the disorder themselves only if both parents have the defective gene.
There is also an acquired form of hemophilia that can occur because of a gene mutation. A similar bleeding disorder, with different inheritance patterns, is von Willebrand disease. There are several types, some of which are autosomal dominant and some of which are autosomal recessive.
Vitamin K deficiency, common in babies, can also present similar short-term symptoms. Vitamin K (prevalent in greens) is necessary for the production of some clotting factors, and infants do not yet have enough gut flora to properly synthesize vitamin K. This is known as “hemorrhagic disease of the newborn,” and it is avoided by injecting newborns with vitamin K.
Whatever the cause, it’s important to detect and address signs of any bleeding problem early in an infant to prevent a potential emergency.
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. Direct pressure and a bandage are usually sufficient. 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 hemophiliacs to keep their joints and muscles strong and flexible through activities such as swimming, biking or walking, along with regular stretching.
Hemophiliacs must avoid blood thinners such as aspirin and other NSAIDs. Ironically, when hemophilia passed through most of the royal families of Europe, aspirin was the accepted medical treatment, and it worsened the disease. Rasputin was given credit for improving the condition of the Tsar’s hemophilia simply by advising against medical treatment.
Other anticoagulant or antiplatelet medications (heparin, warfarin, Pradaxa) or supplements (ginkgo biloba, dong quai, kava) should also be avoided.
Hemophiliacs are usually advised not to ride motorcycles or participate in contact sports such as football, wrestling and hockey that carry the risk of trauma. Since these sports can be culturally and socially important to youth, some doctors have argued against heavy restrictions.
An Australian study of 104 boys with moderate to severe hemophilia found that these risks could be reduced to those of a normal child with prophylactic (preventive) administration of clotting factor.
Clotting factors derived from donated human blood or genetically engineered products (recombinant clotting factors) are the major treatment for moderate to severe hemophilia. During a severe bleed, repeated infusions may be necessary.
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.
Since the clotting factor for hemophilia C is available only in Europe, these patients need transfusions of plasma to stop bleeds. Mild hemophilia can usually be treated with slow injections of the hormone desmopressin (DDAVP) into a vein to stimulate release of clotting factor.
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. A list of these centers can be found at the Centers for Disease Control (CDC) web site.
Before effective treatment was developed in the 1960s, the average life expectancy for a hemophiliac was 11 years. During the 1980s, many hemophiliacs died from effects of HIV transmitted through blood transfusions. Those risks have been reduced through screening of blood and development of genetically engineered clotting factors.
Today, most hemophiliacs can lead a normal life with average life expectancy shortened by an average of about 10 years.
REFERENCES:
“Hemophilia,” PubMed Health, reviewed by David C. Dugdale, III, M.D., February 28, 2011.
Emma Hitt, Ph.D., “Hemophilia: contact sports pose little risk,” Medscape Medical News, October 9, 2012 (JAMA, 2012;308:1452-1459).
“Learning about hemophilia,” National Human Genome Research Institute, last updated September 27, 2011.
Jeanne M. Lusher, M.D., “Highlights from the XXVth International Congress of the World Federation of Hemophilia,” Medscape General Medicine, 2002;4(3).
Mayo Clinic Staff, “Hemophilia,” MayoClinic.com, August 31, 2011.
National Health, Lung and Blood Institute, “Rosacea,” PubMed Health, reviewed October 22, 2011.
02/04/2013
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