Hemophilia

Introduction to hemophilia Hemophilia is a group of hemorrhagic diseases caused by a deficiency of hereditary factor VIII or factor IX. The main pathological change is the first stage of the blood coagulation process, thromboplastin. Divided into two types, A and B. According to the report of the World Health Organization (WHO) and the World Federation of Hemophilia (WHF) 1990 Joint Conference, the incidence of hemophilia A is about 15-20/100,000 people, and the statistics of European and American countries are about 5-10. 100,000 people, the incidence of hemophilia A in China is about 3-4 million people. Hemophilia B, called Factor IX deficiency or Christmas disease, has an incidence of about 1.0 to 1.5/105, accounting for 15% to 20% of hemophilia. Factor IX has a gene length of 34 kb and is located on the long arm of the X chromosome, with 8 exons and 7 introns. Factor IX is a plasma protein dependent on vitamin K with a relative molecular weight of 56,000 and a synthetic site in the liver. Hemophilia A, B treatment is similar, using alternative therapy, plasma, prothrombin complex (PCC), factor IX concentrate and recombinant factor IX products can be used. basic knowledge The proportion of sickness: 0.0027% Susceptible people: no specific population Mode of infection: non-infectious Complications: ischemic necrosis, edema, muscle atrophy

Cause of hemophilia

Congenital clotting factor deficiency (25%):

Congenital coagulation factor deficiency, resulting in hemorrhagic disease, congenital factor VIII deficiency is a typical sexual recessive inheritance, transmitted by women, male onset, control factor VIII coagulation component synthesis of genes located on the X chromosome, diseased men and normal women Marriage, the males are normal in the children, the females are the transmitters, the normal males and the females in the delivery are married, and half of the males are the patients.

Impaired formation of blood enzymes (30%):

The genetic pattern of factor IX deficiency is the same as that of hemophilia A. However, in female transmitters, the level of factor IX is low, there is a tendency to hemorrhage, and the lack of factor X1 causes a disorder in the formation of blood thromboplastin. Prothrombin cannot be converted into blood coagulation. Enzymes, fibrinogen can not be converted to fibrin and are prone to bleeding.

Hemophilia prevention

First, avoid intravenous and intramuscular injections of patients.

Second, because the disease is a hereditary disease, it is necessary for the patient and his family to understand the principle of prenatal and postnatal care. If the prenatal amniocentesis is diagnosed as hemophilia, the pregnancy should be terminated to reduce the birth rate of hemophilia.

Third, flirting: due to mental stimulation can induce bleeding.

4. Once the bleeding is caused by trauma or other reasons, it should be disposed of in time. The complications and sequelae caused by this are relatively light.

5. If surgery is required, the VIII factor must be referred to the alternative treatment effect according to the plasma VIII:C level and the size of the operation before surgery.

6. Drugs that inhibit platelet aggregation, such as aspirin, phenylbutazone, dipyridamole and prostaglandin E.

Hemophilia complications Complications ischemic necrosis edema muscle atrophy

Deep tissue hematoma can compress nearby blood vessels to cause tissue necrosis. Compression of nerves can cause limb or local pain, numbness and muscle atrophy. Compression of blood vessels can cause ischemic necrosis or congestion of blood supply sites, edema, oral bottom, pharyngeal wall, and larynx. And neck bleeding can cause difficulty breathing or even suffocation, patients can not completely absorb blood due to repeated joint cavity hemorrhage, forming chronic inflammation, synovial thickening, fibrosis, cartilage degeneration and necrosis, eventually joint stiffness, deformity, peripheral muscles Shrinking, resulting in limited normal activities.

Symptoms of hemophilia Common symptoms Repeated bleeding and bleeding tendency Bone destruction Abdominal pain Hematuria abnormal Uterine bleeding Muscle atrophy Black stool joint deformity Snot

Bleeding is the main clinical manifestation of this disease. Patients have spontaneous mild injury for life, and long-term bleeding tendency after surgery. Heavy-duration can occur both after birth and milder.

1, skin, mucosal bleeding: due to subcutaneous tissue, gums, tongue, oral mucosa and other parts are prone to injury, it is a frequent site of bleeding, children are more common in the frontal part of the bleeding, hematoma, but skin, mucosal bleeding is not the characteristics of this disease .

2, joint blood: is a common clinical manifestation of hemophilia A patients, often occurs in trauma, walking too long, causing synovial hemorrhage after exercise, more common in the knee joint, followed by sputum, hip, elbow, shoulder, wrist joint Etc., joint bleeding can be divided into three phases:

A. Acute phase: bleeding in the joint cavity and around the joint tissue, causing local fever, redness, pain, followed by muscle spasm, limited mobility, and the joint is mostly in the flexion position.

B. Total arthritis: In most cases, blood is not completely absorbed due to repeated bleeding. The enzyme released by white blood cells and other components in the blood stimulate joint tissues to form chronic inflammation and thickening of the synovium.

C. Late stage: joint fibrosis, joint stiffness, deformity, muscle atrophy, bone destruction, joint contracture leading to loss of function, repeated knee bleeding, often causing knee flexion, valgus, humeral subluxation, forming characteristic hemophilia pace.

3, muscle bleeding and hematoma: in severe hemophilia A often occur, mostly after trauma, muscle activity occurs too long. More common in the muscles of the force.

4, hematuria severe hemophilia: A patients may have microscopic hematuria or gross hematuria, no pain, no history of trauma, but if there is ureteral clot formation, there are symptoms of renal colic.

5, pseudo-tumor (hemophilia blood cysts): cysts can occur in any part, more common in the thighs, pelvis, calves, feet, arms and hands, and sometimes in the eyes.

6. Trauma after trauma or surgery: Various degrees of trauma, minor surgery can cause long-lasting and slow bleeding or bleeding.

7, other parts of the bleeding: gastrointestinal bleeding can be manifested as hematemesis, melena, bloody stools or abdominal pain, most patients with primary lesions such as stomach, duodenal ulcer, hemoptysis and tuberculosis, branch expansion and other primary lesions. Bowels, sublingual hematomas are usually caused by intraoral damage in patients with hemophilia A. Sublingual hematoma can cause tongue displacement. If the hematoma develops into the neck, it often causes difficulty in breathing; intracranial hemorrhage is often the cause of death of hemophilia patients.

8. Compression symptoms and complications caused by hemorrhage: Hematoma compression nerves can cause numbness, loss of sensation, severe pain, muscle atrophy, etc. Tongue, bottom of the mouth, tonsil, posterior pharyngeal wall, anterior neck hemorrhage can cause upper airway obstruction, leading to difficulty in breathing, and even suffocation, local blood vessels are compressed, can cause tissue necrosis.

Hemophilia check

First, blood: generally no anemia, white blood cells, normal platelet count.

Second, coagulation test: normal bleeding time, prolonged clotting time, prothrombin time (PT) normal, activated partial thromboplastin time (APTT) prolonged, can be corrected by normal fresh plasma or barium sulfate plasma hemophilia A (A), can be corrected by normal serum, but not corrected by barium sulfate adsorption plasma is hemophilia B (B).

3. Determination of coagulation factor activity: Factor VIII procoagulant activity (VIII: C) was significantly reduced (hemophilia A, typing: heavy <1%, medium 2% to 5%, light 6% to 25%, subclinical Type 26% to 49%), factor IX procoagulant activity (IX: C) decreased (hemophilia B).

Diagnosis of hemophilia

Diagnostic criteria :

A. Mostly male patients (female homozygotes are rare), with or without family history, family history with x-linked recessive inheritance.

B. Joint, muscle, deep tissue hemorrhage, with or without active activity, exertion, trauma or abnormal bleeding history after surgery, severe deformity can be seen.

C. The laboratory test results are positive.

Differential diagnosis:

First, the identification of hemophilia A and hemophilia B.

Second, the identification of vascular hemophilia.

Third, the identification of diseases associated with other coagulation factors.

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