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  Hemophilia

Hemophilia is the term that is used for several hereditary blood illnesses that involve the body’s capacity to control bleeding. This disease is a hereditary genetic disease and is classified into three subtypes. Hemophilia results in a lower plasma clotting factor that will impair blood clotting. Externally, this means that a scab is unable to form to stop bleeding. Bleeding can last for a long time and be excessive. If the injury is internal, the bleeding can occur into muscle, joints or hallow organs. This bleeding may appear as bruises to the skin, melena (black tarry stools due to gastrointestinal bleeding), bleeding in the brain or hematuria. Hematuria is the presence of blood in the urine which can originate in the bladder, ureters, urethra, or kidneys.

Hemophilia Blood disorder
Hemophilia


The three types of Hemophilia are A Factor VIII, B Factor IX, and C Factor XI. Type A Factor VIII is x-linked recessive and known as classic hemophilia. Type B Factor IX is also x-link recessive and known as Christmas disease. The name Christmas disease comes from Stephen Christmas, a then five year old boy that was the first patient diagnosed with this second form of Hemophilia that is due to a lack of Factor IX in the blood stream. It is not named after the Christian holiday. Type C Factor XI is linked with Ashkenazi Jews and is autosomal recessive. Hemophilia is first noted in history in the Talmud, Holy Jewish Book, in which infant boys were not required to be circumcised if their brother’s had died from bleeding after the procedure.

Hemophilia was first used as the term for this disease in 1828 at University of Zurich. Two doctors from Harvard, discovered the anti-hemophilic globulin in 1937. Dr. Pavlosky of Beunos Aires discovered that there were two types of hemophilia when he transferred the blood of one hemophiliac to and hemophiliac, which resulted in ameliorating the clotting difficulties.

Hemophilia has been referred to as the Royal disease because of it has had a significant appearance in members of European Royalty. Queen Victoria was a carrier of hemophilia and passed the disease onto her son Leopold and passed the carrier genetic mutation to several of her daughters. Across Europe a number of royal families were affected in countries such as Spain, Germany and Russia.

Symptoms:

The first symptom of hemophilia is excessive bleeding after circumcision of boys (obviously). Other symptoms are swollen joints, swollen muscles, excessive bleeding in the mouth – especially in toddlers, following an injury and severe bleeding after tooth extractions, oral surgery, minor injuries or surgery.

Diagnosis:

Diagnosis for hemophilia is made through a blood test. When an injury occurs the blood begins to coagulate. The hemophilia evaluates the coagulation process by applying certain chemical agents to the blood. When bleeding starts, a clot will begin to form to stop the bleeding – this clot, or plug is called a fibrin clot. The length of time it takes for the fibrin clot to form will determine whether the patient has hemophilia. If the clotting is abnormal, then further tests will determine which type of hemophilia the patient has. This is determined by detecting the levels of Factor VIII and Factor IX in the blood stream. Not only is the factor type diagnosed, but the severity as well.

Treatment:

Hemophilia patients need to replace the missing or extremely low levels of clotting factors in their blood stream. This is done intravenously and is intended to stop or prevent bleeding. Factor infusions are prepared from donated blood supplies or newer synthetic factors are made from hamsters. Patients with mild hemophilia A may be an appropriate fit for a drug names desmopressin acetate or DDAVP. This drug can temporarily increase Factor VIII levels in the blood stream. This drug can be administer intravenously (via injection) of by way of a nasal spray.

How often patients receive treatment will depend of the severity of the hemophilia. Mild hemophilia may require treatment only after an injury or in preparation for surgery. Severe hemophilia with recurrent bleeding requires a prophylactic approach to treatment. A prophylactic approach indicates regular infusions of clotting factors that will protect the patient from potential bleeding, and joints from deformity or disability.

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