Overview
Hemophilia B, also known as hemophilia B, PTC deficiency, plasma thromboplastin component deficiency syndrome, is a bleeding disorder caused by coagulation factor IX deficiency, attribute chromosomal recessive inheritance, which is characterized by impaired generation of active thromboplastin, prolongation of coagulation time, bleeding symptoms are less severe than those of hemophilia A, and spontaneous bleeding may occur in severely ill patients without obvious trauma.
Etiology
This disease is a congenital familial bleeding disorder, which is inherited in a sex-linked recessive manner. Bleeding is caused by coagulation disorders due to defects in coagulation factor IX.
Symptoms
Bleeding is the main clinical manifestation of the disease, patients have lifelong spontaneous minor injuries, in some cases the bleeding tendency is only found at the time of surgery, the heavy type can be onset at birth, and the light type onset a little later. Minor trauma or minor surgery causes more than bleeding, skin bleeding points are rare, spontaneous bleeding is usually bleeding site in the soft tissues and joints. Repeated bleeding can lead to joint deformity, muscle atrophy and loss of function. Muscle hemorrhages and hematomas can occur in any part of the body and may present with corresponding signs and symptoms of compression. Patients with severe hemophilia B are less common than those with hemophilia A, while milder forms are more common and therefore have a milder clinical presentation.
Examination
1. Laboratory examination
(1) Coagulation tests show prolonged clotting time (which may be normal in mild forms) and poor plasminogen depletion.
(2) Abnormal coagulation factor measurements.
2. Initial screening tests
Prothrombin consumption test (PCT), white clay partial thromboplastin time, and simple thromboplastin generation test (STGT) are helpful in the diagnosis of mild and severe hemophilia A and B. APTT correction test is helpful in distinguishing acquired hemophilia.
3. Measurement of specific factor IX activity
4. Genetic diagnosis
Genetic diagnosis of hemophilia is an effective, accurate and rapid method, and PCR is mainly used for genetic analysis.
Diagnosis
Diagnosis can be made on the basis of clinical manifestations, coagulation tests, genetic diagnosis and other tests.
Treatment
1. Local hemostatic treatment
If the wound is small, apply local pressure for more than 5 minutes; if the wound is large, use gauze or cotton ball dipped in normal human plasma or thrombin, epinephrine, etc., and apply pressure bandage to the wound. When bleeding in the joint cavity, activities should be reduced, and local cold compresses should be applied, and when the swelling does not continue to worsen, hot compresses should be applied.
2. Alternative therapies
(1) Plasma transfusion is an important treatment for mild hemophilia B. However, the excessive dosage of plasma can easily cause hemophilia B to become a chronic disease. However, the application of plasma transfusion is limited due to the excessive dosage of plasma, which may lead to over-volume of blood.
(2) Plasminogen complex (PPC) is the most important alternative therapy for hemophilia B. The use of high dose requires attention to prevent thrombosis. The use of large doses requires attention to prevent thrombosis.
(3) Genetically engineered purified factor IX can be used as an alternative treatment to PPC.
3. Surgical treatment
In case of recurrent bleeding in the joint cavity, synovectomy can be considered. Surgery can also be performed with alternative support when surgical indication exists.
Prognosis
The earlier the age of onset, the worse the prognosis, and the disease cannot be cured at present, but can only be treated to control the symptoms.
Prevention
1. Since this disease is a hereditary disease, the patient and her family should be made to understand the rationale of eugenics. If the diagnosis of hemophilia is confirmed by prenatal amniocentesis, the pregnancy should be terminated to reduce the birth rate of hemophiliac children.
2. Once bleeding is caused by trauma or other reasons, it should be treated promptly.
3. Take care to avoid trauma and unnecessary surgeries in your life. If surgery is needed, you should consult a hematologist.
Nursing care
Care should be taken to avoid trauma after the disease.