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Hemophilia is a hereditary, congenital hematologic disorder typified by a considerable lack of blood clotting factors, namely factors VIII and IX. The lack of coagulating factor in the affected person allows him to bleed for a longer period after an injury or surgery compared to a healthy person.
There are different types of this condition, two of which are more common: Hemophilia A or classic hemophilia with the factor VIII problem; and Hemophilia B or Christmas disease with the factor IX problem. An even rarer type of this condition is Hemophilia C, which has the factor XI deficiency.
Blood coagulation is a process wherein blood is transformed from being a liquid to a solid state. This process involves a number of different factors. These various factors enable the formation of fibrin, which is responsible for stopping bleeding. When the necessary clotting factors are deficient or absent, the blood is unable to clot properly thus bleeding is prolonged.
Hemophilia is an X-chromosome-linked condition that primarily affects male individuals, while females act as carriers. Approximately 1 in 5,000 male individuals are born with HemophiliaA annually, while 1 in 20,000 have Hemophilia B worldwide.
The people who suffer from this bleeding disorder are usually born with it. It is somehow caused by a alteration in the genes (that are located in the X chromosome) that influence the way the body produces blood clotting factors. The mutation that occurs either prevents the clotting factors from functioning the right way, or the clotting factors do not exist in general.
Hemophilia is gained in an X-linked recessive manner. Females get two X chromosomes from each parent, while males get a Y chromosome from their father and an X chromosome from their mother. This then means that hemophilia cannot be passed on from father to son, only from mother to offspring.
If a son inherits an X chromosome with the hemophilia mutation from the mother, he is very likely to manifest the condition. In the case of the daughter, on the other hand, since she will have two X chromosomes, she will most liable to have one healthy X chromosome and one with the hemophilia gene. This results then to the female individual becoming a carrier of the defect (to be passed on to younger generations) rather than be affected by it. Hemophilia can however be manifested in females, but it is an extremely rare occurrence.
Hemophilia can also be acquired. It is another form of this condition that results from the production of autoantibodies that damage and incapacitate the clotting factor VIII. This disorder is somehow linked to immune system problems, cancer, or pregnancy.
Signs and Symptoms
Hemophilia is usually characterized by spontaneous bleeding episodes and easy bruising of the skin. This, however, depends on the severity of the condition. For mild cases, the bleeding may occur only after injury or surgical procedures. Severe cases of this condition may end up in spontaneous bleeding which can be manifested by:
- Excessive bleeding resulting from injury, dental work or surgical procedures;
- Noticeable skin bruising that are large and deep;
- Bleeding after needle pricks;
- Joint pain, swelling, and/or tightness;
- Presence of blood in the stool or urine; and
- Spontaneous nosebleeds.
The main mode of treatment for hemophilia is replacement therapy of the missing or defective clotting factors. These clotting factors are infused through a central port in the chest or a vein in the arm.