Hemophilia Genetics and Carrier Tests
Hemophilia Genetics and Carrier Tests
The rare genetic condition known as hemophilia involves the inability of the blood to form clots. Typically, this inability comes about because of a lack of blood-clotting proteins. If someone with hemophilia gets a small cut, it’s not necessarily a cause for concern. However, hemophiliacs are also prone to deep, internal bleeding that can prove to be life threatening.
About Hemophilia
Since ancient times, medical experts have noticed that a small percentage of people doesn’t bleed the same way that everyone else does. Sometimes, the condition is mild and isn’t noticeable until a major surgery is performed or an accident occurs. When symptoms are more severe, the condition can be readily apparent even without trauma.
While doctors and other health care workers had noticed that some people seemed to bleed a great deal more than others, the cause remained a mystery until around the time of World War II when researchers uncovered the blood protein that was behind the problem. Classic, or factor VIII, hemophilia and Christmas disease, or factor IX, hemophilia have similar symptoms. Nonetheless, they are caused by defects in different genes.
Symptoms of Hemophilia
One person’s symptoms may be quite different from another’s. This largely depends upon how reduced the individual’s clotting factor level is. When the condition is severe, the patient may suffer from occurrences of spontaneous bleeding. Signs and symptoms may include unusual or unexplained bleeding after an injury or medical procedure, bleeding after receiving shots, joints that are tight and swollen or blood in the urine or stool. Some people who have hemophilia may often have deep, large bruises that they can’t explain or frequent nosebleeds.
Symptoms can become life threatening. Sudden swelling and pain in joints like the knees, hips and shoulders may indicate excessive, spontaneous bleeding. A prolonged headache, persistent vomiting, a painful neck and extreme tiredness may all suggest a serious bleeding event that requires immediate medical attention.
Life Expectancy
While no cure exists for hemophilia, there is no reason why a person with hemophilia can’t expect to lead a long, full life. Successful treatments for bleeding episodes and ongoing management of the condition have become widely available.
Hemophilia Carriers
A woman may be a carrier of hemophilia if she inherits an X chromosome that has an affected factor VIII or IX gene. Typically, she does not exhibit symptoms of the condition herself, but she can pass on the mutated gene to her children. Assuming that the child’s father does not have hemophilia, there is a 25 percent chance that the mother will pass the condition on to her children. Nearly all cases of hemophilia cases are diagnosed in males. In extremely rare cases, a female baby will be diagnosed with the condition when the father has hemophilia and the mother is a carrier.
Why Hemophilia Carrier Testing Is Important
Women who have male relatives with hemophilia may want to be tested before becoming pregnant. This helps to inform their child-bearing decisions and may also assist with their own choices for medical care. It may further provide a valuable impetus to other female family members who should be tested to see if they are hemophilia carriers.
It’s important to be tested for carrier status in order to provide complete health information to all doctors, including the OB/GYN. This way, medical personnel can be prepared for the potential for excessive bleeding at delivery and to provide immediate, specialized care for an infant that may have hemophilia.
Trust DNAcarriertests.com to provide you with the answers you need to make informed family-planning decisions and to ensure that you get the best care possible.