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Hemophilia

  1. Symptoms
  2. Reasons
  3. Diagnosis
  4. Treatment


Hemophilia

hereditary disease, which is associated with disorders of blood coagulation as a result of genetic disorders. This disease is characterized by spontaneous bleeding or bleeding into joints, internal organs and muscle or bleeding a few hours after the injury. Blood clotting is one of the most important functions of the hematopoietic system, responsible for stopping bleeding when vascular injury (e.g., injuries or cuts or after surgery).


Symptoms

  • bleeding prolonged bleeding, even if injuries are minor or after injury, the blood stops like a normal person, but after a certain period of time the bleeding starts again
  • hematoma on the background of injuries or various traumas. For example, intra-articular hemorrhage
  • hematoma subcutaneous, intermuscular
  • gastrointestinal bleeding
  • hematuria (presence of blood when urinating)
  • heavy bleeding during dental procedures.


Form

  • Hemophilia a as a result of failure of coagulation occurs the gene of hemophilia type. This is the most common type of this disease
  • Hemophilia b Christmas disease is caused by deficiency of clotting, the absence or presence in small quantities of a protein molecule Christmas, in its manifestations absolutely no different from that of haemophilia A
  • Hemophilia disease Rosenthal also occurs when failure of blood clotting (thromboplastin precursor). This disease occurs very rarely, in this form the presence of spontaneous bleeding is unusual.


Reasons

  • Hemophilia a and b mutations occur in chromosome X. the Disease is transmitted from father to his daughter, but does not manifest itself, however, transmitted to her children. If both parents are sick with hemophilia, there is a possibility of disease, and future children. The child may be born with hemophilia, even if the parents are healthy, it occurs due to mutations in the process of formation of the fetus in the womb
  • Hemophilia occurs With this form of disease as the result of mutations in the chromosome is also inherited from one or both parents.

The period of special risk can be considered periods of confinement and the postnatal period, at these moments can be very significant blood loss.

In the third trimester already solves a question on delivery. After childbirth there is a risk of bleeding in the brain, retina, and it is for patients with hemophilia people is much more dangerous than healthy.

Caesarean section can be done also only after the introduction of the necessary preparations with the missing clotting factors.

Bleeding can develop at any time even with minor interventions in the human body.


Diagnosis

  • Analysis of gene history. It turns out the factor of the disease or diseases in one or both parents
  • patient complaints
  • General examination of the human body (the presence of the body bruises, skin and joints, etc.)
  • the definition of hemophilia. Identificireba-test mix
  • laboratory diagnosis of blood
  • determined the activity of blood coagulation factors
  • the consultation with different doctors (internist, surgeon, orthopedist, traumatologist,

    etc.).


Treatment

This disease cannot be cured, but you can make some interventions to improve the patient’s condition and to remove some of the signs of hemophilia, namely

  • introduced in the human coagulation factor, it is synthesized by fungi, which introduced the human gene responsible for the synthesis of clotting factors
  • in the blood introduced the cryoprecipitate (a concentrate of coagulation factors)
  • the blood is introduced frozen plasma.

The girls in severe disease can occur some problems during menstruation. It is necessary to resort to the method of sterilization (in this case the fallopian tube.). After that she becomes infertile.

To stop the bleeding with a soft dressing and the application of ice. In the presence of muscle hematomas need to do immobilization (it is necessary to Immobilise the injured limb), ice, to ensure the elevated position of the limbs. If there was surgical intervention, it is necessary to consult with a hematologist and administration of drugs that provide blood clotting. To the introduction of drugs that stop the blood. It is desirable to do this in the presence of wounds which are bleeding. Sometimes it is possible the use of plasmapheresis, in this method, blood plasma is extracted and purified through a certain filter, it then re-injected into the body of the sick person.

Complications

The consequences and complications of the disease

  • the lethal outcome is due to the fact that the disease can be bleeding in the brain or other vital organs. May develop on the background of any disease
  • a person can become disabled. Can occur bleeding in the joints, which further leads to their immobility
  • complications in the functioning of the musculoskeletal system
  • copious hemorrhage into soft tissue
  • stenosis
  • kidney bleeding
  • the risk of infection with hepatitis of any form increases
  • the presence of a hematoma can lead to ossification. In this case, the soft tissues are formed of a seal that may be causing pain when walking or movement
  • disturbances in social adaptation.

Prevention

Prevention of hemophilia

  • medical-genetic counseling of couples at the planning stage of pregnancy, early diagnosis of hemophilia at the stage of prenatal (intrauterine) development
  • prevention of hemarthrosis (joint bleeding) and other bleeding clinical examination of patients, maintaining a certain lifestyle with minimal risk of injury, the early use of valid types of physical therapy (swimming, atraumatic trainers)
  • surgical and isotopic synovectomy (excision of synovial membrane of joints) effective method of preventing hemarthrosis, as one of the most common complications of hemophilia
  • the organization of the early introduction of antihemophilic preparations at home (visiting specialized teams, patient education in the school of nursing)
  • in the most severe cases, shows the systematic (23 times a month), prophylactic administration of concentrate of coagulation factors
  • when surgical intervention is desirable to consult a hematologist and the introduction of the missing coagulation factors to the development of bleeding.