Hemophilia A

The Hemophilia A is The most common form of hemophilia and, after von Willebrand disease is the second genetic disorder Associated with bleeding serious. It is a disease hereditary Caused by a reduction in the amount or activity of coagulation factor VIII . This protein acts as a cofactor for factor IX in the activation of factor X in the coagulation cascade . A failure at this point in the coagulation cascade results in the formation of fibrin deficient, que causes coagulation much more Prolonged and more stable clot. Approximately 1 in 5,000 evils Affected.

Hemophilia A

The disease is a recessive Caused by allele of the gene located at F8 X chromosome ( Xq28 ), so That it develops in men and in women homozygous . However, a mild form Described of the disease in females heterozygous , probably due to a Lyonization unfavorable (normal X chromosome inactivation in Most cells). Approximately 30% of patients have no family history, so presumably Their disease is due to mutations new.

Women with a defective factor VIII gene are carriers of this trait. 50% of the male offspring of female carriers Have the disease and 50% of the female offspring are carriers. Also, all the daughters of a hemophiliac male carrying the trait.

Hemophilia A Etiology

Those Affected by May hemophilia have bleeding in any area, but The most common sites are the joints ( knees , ankles , elbows ), muscles and digestive system . The hemarthrosis are so characteristic of spontaneous hemophilia That are almost the primary diagnosis of the disease. Patients with mild hemophilia have bleeding only in response to major trauma or surgery. And there are Those with severe hemophilia spontaneous bleeding.

The first signs of hemophilia Already May Occur With the delivery using forceps or vacuum extraction vaginal deliveries, resulting in the head bruises or hematomas and intracranial hemorrhage events. Prolonged bleeding from a circumcision or venipuncture is another common early signs of hemophilia.

Hemophilia A Clinical

You can believe or suspect the diagnosis to patients with hemophilia secondary to trauma or spontaneous bleeding, Especially If They Appear early in life or at birth.

The detailed evaluation of the bleeding history of the patient and his family will be an important guide for the correct diagnosis of hemophilia aid. Below laboratory participation is essential. In patients with coagulopathies congenital abnormalities are evident on tests measuring clotting globally.

Specifically in the case of hemophilia A is elongated the cephalin . Confirmation of the type of hemophilia is Obtained When an absence or significant decrease detected coagulation factor VIII .

Hemophilia A Diagnosis

Hemophilia A Laboratory

Tests of blood clotting Many take place if the person tested is the first in the family with a bleeding disorder Once the defect has-been Identified, other family members will need less testing to diagnose. Tests include:

Part Time thromboplastin time Prolonged. Prothrombin time standard. Normal bleeding time. Normal levels of fibrinogen . Low activity of factor VIII serum .

Hemophilia A Laboratory

The treatment Involves Replacing the standard clotting factor missing. The amount of factor VIII concentrates needed depends on the severity and location of the bleeding, as the size of the patient. Mild hemophilia May be TREATED WITH desmopressin (DDAVP), que Helps the body release That factor VIII is stored in the inner lining of blood vessels .

To Prevent a bleeding crisis and Their People with hemophilia can be-taught families how to administer factor VIII concentrates in Their homes, at the first signs of bleeding. People with severe forms of the disease May need Regular preventive treatment.

Depending on severity of the disease, May be Administered factor VIII concentrate or desmopressin (DDAVP) before performing an extraction dental and surgery in order to Prevent bleeding. Necessary It is vaccination against hepatitis B , as there is an Increased risk of exposure to hepatitis B virus , due to frequent infusions of blood products. Patients who Develop an inhibitor to factor VIII May require treatment With Other clotting factors: such as clotting factor VIIa , que can help even in the absence of clotting factor VIII.

Hemophilia A Treatment

Hemophilia A Treatment

BY :- 1. Mustafa Ahmed Sulaiman 2. Hussein Salim Hamad

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