Etiology

- congenital blood coagulation disorder;

• inheritance is sex linked, males are affected while females act as carrier;

• some cases do not have any family history and presumably result from spontaneous genetic mutations.

Pathogenesis

There are the major types of hemophilia: hemophilia A, hemophilia B (Chistmas disease) and hemophilia C.

Hemophilia A occurs as a result of low level or either absence of factor VIII, which primary synthesized by liver, but other organs such as the spleen. Kidney may also contribute to the plasma level. The factor VIII gene is localized on the X chromosome that is way the hemophilia A sex-linked disorder. All daughters of patient with hemophilia are obligate carriers and sisters have a 50%, chance of being a carrier. If a carrier has a son, he has a 50% chance of having hemophilia, and daughter has a 50% chance of being a carrier. 33% cases do not have family history. Lack of factor IX gene is known as hemophilia B (or Christmas' disease). Hemophilia C occurs in patients with lack of factor XI (Rosenthal syndrome).

Clinical feature

The main patients' complaints: spontaneous bleeding after trauma, dental extraction, surgery manipulation. Sometimes may be nasal, pulmonary hemorrhage and from gastrointestinal, genitourinary systems. The patient complains of the joint enlargement.

Objective examination. General patient's condition is usually satisfactory. In case of prolonged and recurrent hemorrhages and loss of large amount of blood general condition may be middle grave or grave. The posture of the patients is active with restriction due to the pain and walking difficulties in affected joints and muscles caused by spontaneous bleeding.

The color of the skin and visible mucosa as a rule is pallor, with hemorrhages lesions: petechia, ecchymoses and hematoma. Bleeding into the joints is known as hemarthrosis begin spontaneously without apparent trauma. The joints most commonly affected are knees, elbows, ankles and hips. Bone destruction occurs due to repeated subperioctal hemorrhages. The defects undergo neoossification causing expansion and pathological fractures in the bones. The deformities of joints and bones are specific signs of hemophilic patients. Muscle hemotomas are also characteristic of hemophilia secondary to hematomas appears atrophy of muscles. These occur most commonly in the calf and psoas muscles but they can arise in almost any muscle and cause the pressing on the nerve with consequent parasthesia and weakness in the extremities, progressive muscle and nerve damage resulting neuropathy. Hemophilic pseudotumours may occur in long bones, pelvis, ringers and toes.

The course of disease is characterized by early onset in babies about 6 months old, when superficial bruising or a hemarthrosis may occur. The spontaneous bleeding episodes, joint deformity and crippling are observed entire the patient life. Hematuria is more frequently than gastrointestinal bleeding. Intracranial hemorrhage is rare, but in severe and prompt case it may be fatal outcome. Operative and postoperative hemorrhage is dangerous.