Hemophilia - a hereditary blood disease, which is caused by the congenital absence or reduction in the number of blood clotting factors.
The disease is characterized by impaired blood clotting, and is manifested in frequent bleeding into joints, muscles and internal organs.
The disease occurs only in males, females are carriers of the hemophilia gene. Everyone is born to the woman's boy has a 50% chance to become hemophiliacs. Carriers usually have no evidence of disease.
manifestation of hemophilia
The first manifestations of bleeding in patients with hemophilia develop most often in a time when the child begins to walk, or subjected to domestic injury. In some patients, the first signs of hemophilia are detected already in the neonatal period (bruises). Children with hemophilia are fragile, pale, thin skin and a poorly developed subcutaneous fat layer. Bleeding compared to their causes are always excessive. Along with subcutaneous, intramuscular, intramuscular hemorrhage observed in the internal organs, as well as bleeding in the joints occurring with increasing temperature. Most often affects the large joints. Repeated bleeding into the same joint leads to inflammatory changes in it, deformation and limited mobility.
Diagnostics
Diagnosis is based on genealogical analysis, revealing a sharp slowdown in blood clotting. Retraction of a blood clot is normal or slightly delayed. Decreased level of factors VIII and IX. To determine haemophilia proposed thromboplastin generation test.
The severity of haemophilia depends on the level of coagulation factor and is traditionally expressed as a percentage of the average normal clotting activity which is defined as 100%. Carriers of hemophilia often have a reduced level of factor in the blood. The severity of the disease is determined by the level of activity of factor VIII and factor IX in the percentage of normal activity in blood:
- 200% - the highest levels detected in pregnancy;
- 50% -200% - a normal level of activity of factors VIII or IX;
- 25% -49% - about a third of the carrier has a level corresponding to the lower limit of the norm, or slightly smaller;
- 6% -24% - mild hemophilia factor activity at a level above that even if bleed uncharacteristically trauma;
- 1% -5% - moderate severity hemophilia;
- less than 1% - severe hemophilia.
hemophilia treatment
haemophilia treatment comprises administering is in short supply in the patient coagulation factor directly into the patient's vein. Treatment may or prevent bleeding, or to reduce its consequences, preventing disability.
When intravenously administered to hemophilia A antihemophilic plasma (single dose of 50-100 ml), antihemophilic plasma with epsilon-aminocaproic acid, dry antihemophilic plasma (diluted with bidistilled water - 100: 50 mL). Furthermore, use antihemophilic globulin (5 ml single dose i.v.); hemophilia B and C are used with good effect human serum (20 ml) and epsilon-aminocaproic acid (5% solution to 100 ml with older children 3-4 times a day).
Given that in hemophilia intramuscular and subcutaneous injections give hemorrhage, drug advantageously administered intravenously or are inside. Diet patients must be enriched with vitamins A, B, C, D, salts of phosphorus and calcium. Recommended peanuts. In uncomplicated bleeding into joints is shown at rest, and cold. Diseased joint is immobilized plaster splint for 3-4 days. Subsequently UHF shown.
prevention
The most important preventive measure - genetic counseling of the intending spouses. When marriage hemophilia and hemophilia female conductor to have children is not recommended. Healthy woman, married to a patient, for 14 - 16 weeks of gestation by transabdominal amniocentesis set sex of the fetus. If a future child - a girl, the mother is recommended to terminate the pregnancy, as there is danger of the spread of hemophilia by a female conductor. When a marriage healthy male and female conductor to have children is not recommended due to the probability of the birth of a man with hemophilia or a female conductor. Identification female conductors possible in determining their blood factors VIII or IX quantitative biochemical method.
