Hemophilia

Hemophilia in children is a group of diseases in which the deficiency of coagulation factors (more often VIII and IX) leads to the appearance of hemorrhagic syndrome.

Allocate congenital and acquired forms of hemophilia. More commonly, congenital hemophilia is found: haemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency, - Christmass disease). Hemophilia C (deficiency of factor XI) is much less common, very rarely - convoluted hemophilia (simultaneous deficiency of factors VIII and IX), often accompanied by a violation of color vision. Acquired hemophilia in children is rare, usually with the appearance of antibodies to coagulation factors in autoimmune and myeloproliferative diseases.

[1], [2], [3], [4], [5], [6]

Epidemiology of hemophilia

The incidence of hemophilia is 13-14 per 100,000 men. The ratio of hemophilia A and hemophilia B is 4: 1. Hereditary nature of hemophilia was noted in 70-90% of patients, sporadic - in 10-30%.

[7], [8], [9], [10], [11], [12]

Classification of hemophilia

• Very severe form of hemophilia (with a very severe form of hemophilia, factor VIII / IX activity does not exceed 0.99%).
• Severe form of hemophilia (factor VIII / IX activity is 1-2,99%).
• Moderately severe form of hemophilia (factor VIII / IX activity is 3-4%).
• An easy form of hemophilia (factor VIII / IX activity is 5-12%).
• The erect form of hemophilia (factor VIII / IX activity is 13-50%).

A type:

1. haemophilia A (deficiency of the VIII factor of blood coagulation);
2. hemophilia B (deficiency of the IX factor of blood coagulation);
3. hemophilia C (deficiency of XI factor of blood coagulation).

Degree of severity (current):

1. Light (factor activity - 5-10%);
2. medium-heavy (factor activity less than 1-5%);
3. heavy (factor activity less than 1%);
4. latent (factor activity above 15%).

Stage of hemarthrosis and arthropathy:

1. hemarthrosis without disrupting the function of the joint;
2. hemarthrosis with adhesive fibrinous synovitis and osteoporosis, initial disruption of joint function;
3. regression with increase and full deformation of joints, severe disruption of joint function;
4. a sharp narrowing of the intra-articular fissure, sclerosis and cystic epiphyses, intraarticular fractures are possible; ankylosis of the joints.

Haemophilia A is an X-linked recessive disease, only boys are ill (frequency is 1 per 5000-10,000 children). The family history is indicative: in 75% of cases for maternal relatives on the maternal line is characterized by increased bleeding.

Hemophilia B - X-linked recessive disease. Its frequency is about 4 times less often than hemophilia A.

Hemophilia C is a disease with an autosomal recessive type of inheritance, characteristic for both boys and girls. In the newborn period, bleeding events in hemophilia are observed extremely rarely, only with a severe deficit (the content of anti-hemophilic factors is below 3-5% of the norm). Hemophilia A and B are characterized by a delayed (2-4 hours after birth) bleeding from the stump of the umbilical cord, hematomas (including cephalohematoma), extremely rarely - intracranial hemorrhages. At the same time for haemophilia C in the period of the newborn is typical the development of massive cephalohematomas, less often - bleeding from the stump of the umbilical cord.

Diagnosis of hemophilia in children is based on data from family history and laboratory studies (increase in the time of blood clotting at normal bleeding time and platelet count, increase in APTT with normal PV.) Diagnosis is confirmed by determining the deficiency of factors VIII, IX or X.

[13], [14]

Treatment of hemophilia in children

Depending on the form of hemophilia, substitution therapy is used. In newborns, doses of anti-hemophilic factors are not worked out.

Haemophilia A

With the introduction of 1 U / kg anti-hemophilic globulin, the activity of the endogenous anti-hemophilic factor increases by 2%. Usually, the blood clotting factor VIII (Cryoprecipitate, Antigemophilic plasma) is used. Enter 0.3 doses / kg intravenously, if necessary, repeat the introduction.

Hemophilia B

Apply a concentrate of coagulation factor IX (1 unit / kg of body weight increases the factor level in the blood by 1%). The drug is administered intravenously, bolus. Doses of the drug in adults range from 30 to 50 units / kg body weight and even up to 100 units / kg with massive bleeding. A newborn is administered no more than 30 U / kg of body weight. The treatment is supplemented with a transfusion of the blood coagulation factor VIII (Cryoprecipitate, Antigemophilic plasma) containing the coagulation factor IX in a dose of at least 25 ml / kg of mass intravenously drip.

Hemophilia C

Apply the factor of blood coagulation VIII (Cryoprecipitate, Antigemophilic plasma) in a dose of at least 25 ml / kg of mass intravenously drip or a preparation of the prothrombin complex (15-30 units per 1 kg of mass, intravenously bolus).

With external bleeding, a pressure bandage, a hemostatic collagen sponge (INN: Boric acid + Nitrofural + Collagen), thrombin, and ice are topically applied.