bubble_chart Overview

Hemophilia is a sex-linked recessive genetic disorder. Clinically, it is characterized by reduced or deficient clotting factors, leading to prolonged bleeding after spontaneous or minor trauma.

bubble_chart Diagnosis

1. Medical History and Symptoms

(1) Medical History Inquiry: Note: ① Age of onset, family history. ② History of recurrent spontaneous bleeding or prolonged bleeding tendency. ③ Sites of bleeding. ④ Use of medications affecting coagulation.

(2) Clinical Symptoms: Joint bleeding: A characteristic feature of this disease, often recurrent. Compression of tissues or organs by hematomas may cause corresponding symptoms. Bleeding in other sites includes skin, mucous membranes, and muscles, usually occurring after trauma, but spontaneous bleeding may also occur. Visceral bleeding: May present as hematemesis, hematochezia, hematuria, and hemoptysis; intracranial bleeding is rare.

2. Physical Examination Findings

Skin ecchymosis; in cases of trauma: prolonged oozing from wounds, or local hematoma with tenderness; joint swelling, tenderness, and restricted movement; recurrent joint bleeding may lead to joint deformities and functional impairment.

3. Auxiliary Examinations

1. Blood tests: Generally no anemia; white blood cell and platelet counts are normal.

2. Coagulation tests: Bleeding time is normal; clotting time is prolonged; prothrombin time (PT) is normal; activated partial thromboplastin time (APTT) is prolonged. If corrected by normal fresh plasma or barium sulfate-adsorbed plasma, it indicates hemophilia A; if corrected by normal serum but not by barium sulfate-adsorbed plasma, it indicates hemophilia B.

3. Coagulation factor activity assay: Significantly reduced factor VIII coagulant activity (VIII:C) indicates hemophilia A (classification: severe type). <1%，中型2～5%，輕型6～25%，亞臨床型26～49%）；因子IX促凝活性（IX：C）測定減少（血友病乙）。

4. Differential Diagnosis

Note: ① Differentiation between hemophilia A and hemophilia B;

② Differentiation from von Willebrand disease;

③ Differentiation from other coagulation factor deficiency disorders.

bubble_chart Treatment Measures

1. Avoid trauma and surgery. In case of joint bleeding, immobilize the affected limb. Avoid taking aspirin and other drugs that affect coagulation.

2. Replacement therapy: ① Hemophilia A: Administer cryoprecipitate, fresh frozen plasma, or factor VIII concentrate. Dose: For Grade I joint hemarthrosis and deep hematoma, factor VIII activity should be increased to 15–30%, requiring 10–15 U/kg (1 unit of factor VIII is equivalent to the concentration in 1 ml of normal plasma); for severe joint hemarthrosis and deep hematoma, factor VIII activity should be increased to 40–50%, requiring 15–25 U/kg; for major surgery, factor VIII activity should be increased to 60–70% or higher, requiring 30–50 U/kg. Calculation formula: Required dose of factor VIII (U) = Target concentration (U/ml) × 40 ml/kg × patient’s weight (kg).

For example, to increase the plasma factor VIII activity to 50% in a 60 kg patient with severe hemophilia A, the required dose of factor VIII = 0.5 U/ml × 40 ml/kg × 60 kg = 1200 U. The half-life of factor VIII in circulation is approximately 10–12 hours, so it should be administered 2–3 times per day.

② Hemophilia B: The treatment principle is the same as for hemophilia A. Administer fresh frozen plasma or factor IX concentrate. Dose: Initial dose 40–60 U/kg, maintenance dose 20 U/kg once daily (factor IX has a longer half-life: 20–24 hours).

3. Surgical treatment: For severe joint deformities that impair normal function, corrective surgery can be performed under strict replacement therapy.

4. Local bleeding: Mainly managed by compression to stop bleeding.