The Hemophilias

    Hemophilia is a blood disorder that prevents blood from clotting properly, leading to uncontrolled bleeding. It is actually a collection of several different genetic disorders passed on by heredity. The two most common types are hemophilia A and hemophilia B. Hemophilia usually affects males.

Heredity and Hemophilia  The Hemophilias are genetic disorders caused by mutations to a single recessive gene on the X chromosome. Women with these types of genetic disorders rarely develop hemophilia, but can pass the disorders on to their sons. Since hemophilia is an X-linked disease, the hereditary nature of the disease is a complicated issue. Further, a wide variety of genetic disorders cause hemophilia, and many mutations are only found in specific heredity groups.

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Types of Hemophilia   Two main varieties of hemophilia exist. Hemophilia A is responsible for eighty percent of all cases. The genetic disorders responsible for hemophilia A result in low levels or abnormal production of the clotting protein factor VIII (FVIII). Hemophilia B, the second most common form of hemophilia, affects factor IX proteins (FIX) and accounts for almost twenty percent of hemophilia cases. Other heredity-based hemophilia disorders may affect other blood clotting factors, but they occur rarely. The most common of these rare disorders, hemophilia C. Hemophilia C affects factor XI proteins, and is unusual in that it affects both males and females.

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Genetics of Hemophilia: Defects in Clotting Factor Production
Hemophilia is a genetic disease: mutations on the X chromosome result in low levels of blood clotting factors VIII or IX.

 The mutations that cause low levels of clotting factor are carried recessively
on the X chromosome.  As women have two X chromosomes (XX), the mutated gene would have to be present on both chromosomes to cause the disease, and this is exceedingly rare.

 Since men have only one X chromosome (XY), one copy of the mutated
hemophilia gene is enough to cause the disease, so males who inherit the gene will be affected.

Hemophilia Causes Bruising and Mild to Severe Bleeding
 Hemophilia's main symptom is bleeding. Defects in blood coagulation factors result in low levels of fibrin, which impairs the body's ability to create strong blood clots. Extensive bleeding and easy bruising are common hemophilia symptoms. Contrary to popular belief, hemophilia does not make people bleed faster. Instead, bleeding lasts for longer than ordinary, due to the body's inability to form a blood clot.

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Hemophilia symptoms may include: easy bruising sudden bleeding bleeding into joints and muscles bleeding into the gastrointestinal tract bleeding into the urinary tract blood in stool blood in urine lengthy bleeding after trauma lengthy bleeding after surgery or dental work frequent nose bleeds intracranial bleeding. Levels of Hemophilia: Mild to Severe    Hemophilia symptoms may be mild, moderate, or severe, depending on the amount of clotting factors produced. Mild hemophilia occurs when clotting factor levels fall between six to thirty percent of normal levels. People with moderate hemophilia have between one and five percent of normal clotting factor levels. Severe hemophilia cases have extremely low levels of clotting factors, amounting to less than one percent.

 Symptoms depend on the severity of hemophilia:
Mild Hemophilia: Symptoms may only be a concern when surgery or dental work is required. Moderate Hemophilia: Symptoms include easy bruising and bleeding. Otherwise mild abrasions (brushing teeth, scratching an insect bite) may cause bruising or bleeding. Severe Hemophilia: Spontaneous joint bleeding can cause severe pain and physical deformity as cartilage and surrounding bones are damaged. Further, gastrointestinal, urinary tract, or intracranial bleeding can occur and require immediate medical attention. Even mild physical trauma to the head may result in intracranial bleeding, a very serious condition. Physical Symptoms and Diagnosis    Hemophilia symptoms are often not apparent at birth unless the disorder is severe. Moderate hemophilia symptoms may not be noticed until a child starts to crawl, when unusual bleeding and bruising become more apparent. A mild case of hemophilia may go unnoticed until dental work, surgery, or a serious injury results in unusual bleeding.

    In addition to bleeding, people with hemophilia must be on the watch for a number of health complications. Medications must be controlled carefully; taking aspirin, NSAIDs and other blood-thinning drugs can lead to serious consequences. Dental hygiene must be carefully maintained. Finally, hemophilia patients who require transfusions of blood products are at increased risk of contracting viruses from infected plasma, although this is less of a problem today than it was in the past.