Hemophilia in children
Hemophilia in children is a hereditary disease that manifests itself in periodic bleeding due to a malfunction of the blood coagulation system.
Blood coagulation occurs with the participation of 12 factors. If any factor is absent or its level is reduced, the blood coagulation process is violated.
Three types of hemophilia are distinguished:
hemophilia A (classic) – lack of antihemophilic globulin – factor VIII;
hemophilia B (Christmas disease) – deficiency of a component of plasma thromboplastin – factor IX;
hemophilia C (rare form) – a lack of component XI factor – a thromboplastin precursor.
The hemophilia gene is transmitted with the sex chromosomes via the X chromosome. Mostly boys and men suffer from hemophilia, while women are carriers of the pathological gene. True, if a girl was born from a sick father and mother, then she can suffer from this disease, but this happens in very rare cases.
If the husband has hemophilia in the family and the wife does not carry the abnormal gene, the sons will receive the Y chromosome from the father, and the healthy X chromosome from the mother and be born healthy. Daughters in this family will receive a healthy X chromosome from their mother and pathological from their father, become carriers and can in turn pass the pathological gene to their sons. If a man is healthy and a woman is a carrier, then their sons are likely to be born 50:50 both sick and healthy.
But in 30% of cases, hemophilia occurs spontaneously and is not associated with heredity. Scientists attribute this to a gene mutation.
In any case, if hemophilia appears in the family, it will be inherited in the future.
Hemophilia is also called royal disease, the disease of kings. This is due to the fact that this disease was found in royal and royal dynasties. So, in Russia, the most famous case of hemophilia is the disease of Tsarevich Alexei, the son of Nicholas II and Alexandra Fedorovna. Less well known is the carrier of the disease, Queen Victoria of Great Britain. It was through her that the pathological gene got to the son of the Russian emperor, since his mother, nee Princess of Hesse-Darmstadt, was Victoria’s native granddaughter.
How is hemophilia manifested in children
Hemophilia can occur in a child at any age. In newborns, this can be a cephalohematoma, prolonged bleeding from the umbilical cord, subcutaneous hematomas. In babies of the first year of life, bleeding occurs during teething or operations. But usually in infants hemophilia does not occur, as they are protected by mother’s milk, which contains substances that promote blood coagulation.
Most often, the symptoms of hemophilia occur after a year – the baby gets to his feet, begins to walk, falls, hits. Then there are huge poorly absorbable bruises, severe and prolonged bleeding from a small cut, unexplained nosebleeds.
Hemophilia in children is manifested by the so-called hemorrhagic syndrome. These are hematomas, bleeding and hemarthrosis. Moreover, these manifestations do not correspond to the severity of the injury.
Hematomas occur in different places – under the skin, between the muscles. They spread rapidly and dissolve slowly. Hematomas can also affect internal organs, located in the chest or abdominal cavity, retroperitoneal space, in the periosteum.
In children with hemophilia, bleeding often occurs. They can be external and internal. Most often it is bleeding from the nose, mucous membranes of the mouth, gums, as well as bleeding in the muscles, joints, soft tissues. Sometimes bleeding from the gastrointestinal tract and kidneys may occur. Internal bleeding is accompanied by severe pain. Very dangerous bleeding in the meninges and brain.
A feature of bleeding with hemophilia is their late manifestation, sometimes 12 hours after an injury.
Some believe that a child with hemophilia can even die from a simple cut, losing a lot of blood. But this is a myth. Small wounds are not terrible. But surgical operations, tooth extraction, spontaneous internal hemorrhages pose a great danger.
Manifestations of hemophilia depend on the severity of the disease. There are three degrees of severity of hemophilia. In severe cases, bleeding occurs spontaneously and is not associated with trauma. With moderate severity, a small injury causes bleeding, but they do not appear immediately, but some time after it. With mild hemophilia in children, bleeding is accompanied by serious injuries or major surgeries.
In 70-80% of cases, hemophilia is manifested by hemarthrosis – hemorrhages in the joints, most often – in the joint bag. As a rule, this symptom appears when the child is growing up and the load on the joints increases. In half the cases, the knee joints are affected, then the elbow and ankle joints. Less commonly affected are the shoulder, hip joints, small joints of the feet and hands.
Hemarthrosis usually begins without cause. The joint increases, reddens, body temperature rises, sharp pain occurs.