Hemophilia (from the Greek haima meaning blood and philia meaning friend) is an inherited medical condition where the blood does not clot properly. Essentially, hemophiliacs - people with hemophilia - lack a protein called a clotting factor that works with platelets to stop bleeding at the site of an injury. People with hemophilia tend to bleed for longer periods of time after an injury and they are more susceptible to internal bleeding.
There are two major types of hemophilia, labeled type A and type B. Hemophilia A is characterized by a lack of clotting factor VIII (8) and accounts for about 90% of hemophilia cases. Seventy percent of hemophilia A cases are severe. Hemophilia B is characterized by a lack of clotting factor IX (9).
As very rare disorders, hemophilia A occurs about once in every 10,000 births and hemophilia B occurs once in every 50,000 births.
What causes hemophilia?
Most cases of hemophilia arise as an inherited disorder, which means that a person is born with hemophilia as determined by his genetic makeup. The condition is caused by a defect in one of the clotting factor genes that lies on the X chromosome. Hemophilia almost always occurs in males since the gene can be passed from mother to son, and a son lacks a second X chromosome to make up for the defective gene. Girls, on the other hand, are likely to be carriers of hemophilia but unlikely to actually have the disorder. In order to have hemophilia, girls must have the abnormal gene on both X chromosomes - a very rare occurrence.
Though most hemophiliac cases are inherited, it is possible for someone to acquire the condition through a spontaneous genetic mutation. It can also develop if the body forms antibodies to clotting factors in the blood that prohibit the clotting factors from working.
What are the symptoms of hemophilia
Hemophilia symptoms are characterized by excessive bleeding and easy bruising. There may be variation in the severity of these symptoms depending on the deficiency level of the clotting factors. Hemophilia may be suspected in a baby boy if excessive bleeding occurs after circumcision.
Excessive bleeding can occur both externally and internally. Signs of excessive external bleeding include bleeding in the mouth from a cut, bite, or tooth loss, spontaneous nosebleeds, heavy bleeding from a minor cut, and prolonged or continued bleeding after bleeding previously ceased. Signs of excessive internal bleeding include blood in the urine or stool and large, deep bruises. Tightness in joints may be the result of bleeding in the knees, elbows, or other joints, and the joints may become swollen, hot to touch, and painful to move.
Hemophiliacs may develop internal bleeding in the brain from a bump on the head or a more serious injury. Symptoms of brain bleeding include headaches, vomiting, lethargy, behavioral changes, clumsiness, vision problems, and seizures.
How is hemophilia diagnosed?
If bleeding problems are observed or hemophilia is suspected, a physician will first look at family and personal medical histories. A doctor may be able to use this information to identify the genetic origins of hemophilia. A physical examination and blood tests are often ordered as well. Blood tests will provide information on how long it takes for blood to clot, levels of clotting factors, and which clotting factors, if any, are missing. Blood test results can identify the type of hemophilia and its severity.
For pregnant women who are carriers of hemophilia, doctors are able to test the fetus for the condition as early as 10 weeks into pregnancy.
How is hemophilia treated?
Hemophilia is treated with replacement therapy, which is the giving or replacing of clotting factors that are too low or missing in a hemophilia patient. Patients receive clotting factors by injection or intravenously.
Clotting factor treatments for replacement therapy can be derived from human blood or synthetically produced in a laboratory (called recombinant clotting factors). Some patients will require replacement therapy regularly in order to prevent bleeding, while others may receive treatment only after bleeding begins and remains uncontrollable. The former is called prophylactic therapy and the latter is called demand therapy. Replacement therapies carry risks such as the possibility of developing antibodies, viral infections from human clotting factors, and damage to joints, muscles, and other body parts if treatment is delayed.
Additional hemophilia treatments include desmopressin (a man-made hormone that stimulates the release of stored factor VIII) for moderate forms of hemophilia A, antifibrinolytic medicines that prevent clots from breaking down, and - in the future - gene therapies. A study revealed how Hemophilia A mice benefited from gene therapy.
How can I cope with hemophilia?
Though there is no way to prevent hemophilia, there are ways to avoid excessive bleeding and to protect joints. These include regular exercise, avoiding certain medications (such as aspirin, nonsteroidal anti-inflammatory drugs, and blood thinners such as heparin), practicing good dental hygiene, and protecting against injuries that can cause bleeding by wearing proper padding and practicing proper safety when engaging in physical or dangerous activities.
Written by Peter Crosta M.A.
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