Hemophilia - a serious hereditary disease characterized by bleeding disorders.The name of the disease comes from the Greek words "blood" and "love."Its main symptom is frequent bleeding, which are very difficult to stop.Hemophilia gene linked ("coupled") with the sex chromosomes, with whom and transmitted.In the history of known cases of hemophilia in males of the royal family, the most famous patient - the son of Tsar Nicholas II and Tsarina Alexandra - Tsarevich Alexei. Content
hemophilia mostly men.Women rarely get sick, and only when the mother is a carrier of the gene, and the father suffers from hemophilia.Basically, they just pass the abnormal chromosome to their children.If a woman is born a girl, she will also be a carrier of the abnormal gene, while the son may be b
Famous bearer of hemophilia gene was the English Queen Victoria (1819 - 1901).She passed the disease to their children Alice and Leopold.Princess Alice, in turn, gave birth to Alix of Hesse-Darmstadt, the future Russian Empress Alexandra Feodorovna.The son of Tsar Nicholas II and the Princess Alix Alex was sick with hemophilia.
mechanism of transmission of the disease depends on who is the carrier of an abnormal chromosome - male or female.Each male cell contains two kinds of chromosomes - X and Y. The female cells there are two X-chromosomes, one of which may be abnormal.This gives a 50% chance that a woman will give it to your children.
In couples in which the husband is ill with hemophilia, and his wife is not a carrier of the abnormal gene, the children are born healthy, because they receive from a healthy mother X - chromosome from his father and only Y - chromosome.While his daughter appeared in a marriage inherit the sick X- chromosome from his father and healthy - from the mother.As a result, become ordinary conductors (bearers) abnormal gene.
Hemophilia can be inherited from grandfather to grandson through his mother -nositelnitsu abnormal chromosomes, or in rare cases occur spontaneously (sporadic mutation) in some diseases.History has not presented evidence of how Queen Victoria inherited disease;evidence that her father really was not Edward, Prince of Kent, has been found.Thus, we can assume that in this case hemophilia, from which later suffered the Tsarevich Alexei, he arose spontaneously.
In any case, once manifested hemophilia in the family will continue to be inherited, as it happened in the royal family.Because of this disease has several alternative figurative name "royal disease", the "disease of kings".In the early XX century, medicine was not as advanced as today, so hemophilia literally walking on a razor's edge.Any, even minor bleeding boy could cost lives.But if certain precautions people can live almost as much as the healthy.For example, Valdemar, the great-grandson of Queen Victoria, lived with this rare disease 56 years.
The mechanism of blood clotting in 12 healthy human factors involved 12 proteins, which are designated by Latin numerals from I to XII.The absence or reduction in the level of one of them in the blood leads to disruption of blood clotting.
previously isolated three types of inherited hemophilia:
Due to the fact that the symptoms of hemophilia C and the mode of inheritance is significantly different from the first two types, it was excluded from the classification and brought rare coagulopathy: a group of diseases with bleeding disorders caused by various reasons.
severity hemophilia can be divided into three forms:
manifestations of hemophilia may have a child of any age.Even the children of the first days of life - in the form of generic kefalogematomy, bleeding from the umbilical cord and the intradermal or subcutaneous hematoma.In children under one year of bleeding may occur during teething.
But most of the symptoms in the first few months of life are practically invisible due to the fact that the mother's milk contains substances to maintain normal blood clotting in the baby.
In most cases, symptoms of hemophilia occur after a year, when the child learns to walk, and inevitably arise the first injury.At this time, one can observe the initial symptoms of hemophilia:
Over time, the child has new symptoms appear:
often severe bleeding does not begin immediately after the injury, and after 6-12 hours.This is due to the fact that at the moment of injury starts bleeding stopped platelets that are in a constant amount in the blood, even in cases of hemophilia.
a result of bleeding may occur a number of complications:
erroneously believe that a patient can die from external bleeding.This is possible, in rare cases.The most life-threatening internal bleeding are obtained as a result of injuries.
The earlier the disease is diagnosed in a child, and treatment is started, the less complications arise.
Diagnosis of the disease is carried out in three stages:
At diagnosis the doctor has to make a differential diagnosis with thrombocytopenic purpura, von Willebrand's disease and Glanzmann thrombasthenia.
hemophilia - a disease that accompanies the child for life.It is impossible to get rid of it.Treatment is reduced to stop any bleeding and response.
A method of treating a disease depends on the type of hemophilia.Patients receive the missing component of blood clotting via intravenous injection.
Before treatment, the child should explore the specialists: a pediatrician, hematologist, dentist, podiatrist and psychologist.Together, they make up an individual scheme treatment course based on the type of hemophilia and the severity of the process.
In hemophilia type A is assigned replacement therapy.The blood of the missing factor VIII administered by infusion child svezhezagotovlennoy citrate blood or direct blood transfusion (the donor has to be someone from the family).Of stored blood for transfusion in this case is not suitable, becauseRequired globulin destroyed during prolonged storage.
in the treatment of hemophilia type A are also used antihemophilic globulin, antihemophilic plasma and cryo-precipitate - antihemophilic globulin, made from fresh frozen human blood.Entered jet, these drugs exhibit excellent hemostatic (hemostatic) effect.
the treatment of hemophilia B is allowed to use canned blood as factors IX and XI are not destroyed as a result of storage.
During an exacerbation of the disease the child requires strict bed rest to stabilize his condition.
In cases of minor external bleeding is recommended to use hemostatic sponge, fibrin film and even human milk, which is rich in thromboplastin.
hemarthrosises When the doctor prescribes consultation orthopedic surgeon.The main treatment is aimed at the complete immobilization of the joint for 2-3 days, attachment cold.When a massive hemorrhage performed arthrocentesis and administration of hydrocortisone.A few days appoint a gentle massage muscles damaged limbs, gently begin studies in physical therapy and physiotherapy.Only in extreme cases, surgical treatment of the joint.
Although the disease is considered incurable, medicine can maintain a satisfactory state of health of the child-bleeder.
first need prophylaxis of bleeding. This is achieved by timely injections of the missing clotting factor to prevent bleeding into muscles and joints.
All children are necessarily followed up by a pediatrician and have a document that indicates the type of hemophilia, the manner of treatment and outcome.
Parents need to know how to properly care for the child, so that he did not feel uncomfortable at home and among peers.They also must be able to provide first aid to your baby if needed.
When hemophilia is necessary to enrich the child's food with vitamins, as well as salts of calcium and phosphorus.
children suffering from "the royal disease" can not do manual labor due to the risk of injury.Therefore, parents should be interested in intellectual pursuits and the baby to develop in him the capacity for this type of activity.
Sometimes parents confuse vaccination against Hib to the prevention of hemophilia.These two diseases are not related to each other.But the hemophilia is not a contraindication to routine immunization of the child.However, it should be remembered that these children fully immunized subcutaneously to do so after the intramuscular injection may be extensive hematoma.
Another focus in the prevention of hemophilia can be called consultations in medical and genetic centers for families in which one of the family (or an existing child) suffer from this disease.