Hemophilia In Humans - Causes, Symptoms, Types And Treatment

2024 Author: Josephine Shorter | [email protected]. Last modified: 2024-01-31 10:00

Hemophilia: causes, symptoms, how to treat?

Hemophilia is an inherited genetic disorder that develops when one gene on the X chromosome changes. Mainly hemophilia is expressed in insufficient rate of blood clotting, which is the cause of excessive bleeding.

Only men suffer from hemophilia, but they inherit the disease from their mother. That is, the transmission of genetic pathology is carried out according to the recessive type linked to the X chromosome. The woman herself is only the carrier of the altered gene, but she does not develop the disease. Although science knows several cases of hemophilia in female representatives. However, this can only happen if the girl's mother is the carrier of a dangerous gene, and the father suffers from this disease. Then a female child born to such parents will also be sick with hemophilia.

Content:

• Why hemophilia develops, symptoms of the disease
• Disease inheritance variants
• Types and forms of hemophilia
• How is hemophilia diagnosed and treated?
• Hemophilia in women and in the royal nobility
• Disease problem

Why hemophilia develops, symptoms of the disease

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The most common myth regarding hemophilia is that a person can die from blood loss if they receive even a minor scratch. In fact, this is not entirely true. Increased bleeding and a tendency to bleed profusely is indeed a sign of the disease, but bleeding can occur even without prior injury.

The main symptoms of hemophilia are:

• Increased bleeding that occurs from time to time. Moreover, bleeding can open against the background of an injury, after tooth extraction, during an operation.
• Nose bleeding or gum bleeding is difficult to stop. Sometimes it occurs spontaneously.
• Even with minor trauma, the patient develops a large hematoma.
• A tendency to hemarthrosis, in which bleeding develops inside the joint, with damage to its tissues. In this case, the person will experience joint pain, the lesion site will become edematous, the range of motion is limited. Secondary hemarthrosis leads to joint mobility disorders.
• People with hemophilia often suffer from digestive problems.

• Blood may be present in urine and feces. Its appearance in the stool should be the reason for going to the doctor. The fact is that patients with hemophilia often develop kidney pathologies.
• Hemorrhage in the brain and spinal cord is the most formidable complication of the disease that can lead to death.

How does hemophilia manifest in a child?

In newborns, the disease manifests itself as the formation of large subcutaneous hemorrhages in the head area. They are called cephalohematomas. In addition, the baby may develop bleeding from the umbilical cord.

Sometimes the symptoms of hemophilia in a sick child are mild, especially in the first few months of life. The fact is that the baby receives antibodies from the mother, which allow the blood to clot normally.

Why does hemophilia develop?

Hemophilia is a hereditary disease, but it mainly affects men, and women carry a dangerous gene that is located on the X chromosome. Therefore, the risk of inherited pathology to sons is extremely high.

Hemophilia is inherited in a recessive pattern linked to the X chromosome. A man has one X chromosome, if he receives it from his mother, then he gets hemophilia with her.

Modern medicine makes it possible to detect pathology even during the intrauterine development of a child. After his birth, the symptoms of the disease will be increased bleeding and massive hematomas that form for no reason.

Science has not yet found ways to combat the disease, since it is laid down at the genetic level. People born with hemophilia should take good care of their health and follow all the recommendations given by the doctor.

Disease inheritance variants

If the father is healthy, and the mother is a gene carrier, then such parents may have an absolutely healthy son or an absolutely healthy daughter, but there is also the possibility of having a sick son and a daughter who is a carrier of the disease. The probability of the birth of each child (both sick and healthy) is 25%.

Healthy father, mother - gene carrier:

If a man is sick with hemophilia, and the mother is healthy, then all sons will be healthy, and all girls will be carriers of the disease.

Father with hemophilia, healthy mother:

If the father is sick with hemophilia, and the mother is a gene carrier, then a healthy or sick son, a sick daughter or a daughter who is a gene carrier may be born. The probability of each child being born is 25%.

Father with hemophilia, mother - gene carrier:

Types and forms of hemophilia

Depending on the severity of the course of the disease, 3 forms of hemophilia are distinguished, including:

• A mild form of the disease in which bleeding develops only after surgical manipulations, or against the background of an injury.
• A mild form of the disease in which symptoms develop during childhood. Bleeding can open after an injury, and large hematomas often form in a person.
• A severe form of the disease, in which its signs appear in the first months after the birth of a child: during teething, while walking and crawling.

Parents should not ignore a child's nosebleeds if they occur frequently. Also, large bruises and bruises that appear in the baby after minor falls and bruises should be alerted. Such hematomas tend to grow, swell, and when touched, the child will experience pain. The bruises go away for a very long time - over several months.

Hemarthrosis may be the only sign of hemophilia in a child under 3 years of age. In this case, it is the large joints that are most often affected: knee, elbow, hip, shoulder. In this case, the child will complain of severe pain, impaired joint mobility, and their swelling. An increase in body temperature is also possible. All these symptoms should be the reason for contacting a doctor.

There are three types of hemophilia:

• Type A, when the disease is caused by a gene abnormality and the patient has no antihemophilic globulin, factor VII in the blood. It is the most common type of the disease and affects 85% of patients. This variant of the course of pathology is considered classic.
• Type B. In this case, the patient has a deficiency of factor IX of blood clotting. In such patients, there is a failure in the formation of a coagulation plug.
• Type C. In this case, the patient will have blood coagulation factor XI in minimal quantities. This type of disease is less common than others.

Although the disease manifests itself with identical symptoms, regardless of its type, it is important to know it, since this allows for the highest quality treatment.

How is hemophilia diagnosed and treated?

To make a diagnosis, it is necessary to perform a genealogical history, pass laboratory tests and study the clinical picture of the disease. The doctor should find out if the patient's close relatives, in particular maternal men, have suffered from hemophilia.

During a laboratory blood test, a plasma sample is added to it, in which there is no clotting factor, it is important to determine the total number of these factors, as well as the level of their deficiency, to conduct an analysis to clarify the time of blood clotting. The results obtained will make it possible to assess the changes that occur in the patient's body.

While the disease cannot be cured, its course can be brought under control. Patients will need to receive injections of the factor that is deficient in the body. So, with type A hemophilia, a person receives factor VII, and with type B hemophilia, factor IX. These factors are produced either from donated blood or from the blood of animals that are raised for this purpose.

If a person is anxious about his own health, and the doctor prescribes the correct treatment for him, then his life expectancy can be equated to the life of an ordinary person.

Exercises for the rehabilitation and development of joints in hemophilia:

Vaccinations and hemophilia

No vaccine has been developed for the disease. Some people confuse the haemophilus influenza vaccine with the haemophilia vaccine. However, these are two completely different diseases.

As for routine vaccination, in case of hemophilia, it should be carried out as expected. However, injections should be given subcutaneously, not intramuscularly. The fact is that intramuscular injections are associated with the risk of an extensive hematoma.

Hemophilia in women and in the royal nobility

In women, hemophilia develops very rarely, so there is very little information about the course of the disease in the fairer sex.

One thing is surely known - a sick girl can be born, provided that the mother is the carrier of the gene, and the father will suffer from hemophilia. In this case, a sick or healthy son may also be born, as well as a sick daughter or daughter - a carrier of the gene.

The most famous woman who was the carrier of the pathological gene is Queen Victoria. Presumably, she developed a gene mutation, since nothing is known about the state of health of her parents in terms of the disease. Also, scientists suggest that the father of Queen Victoria could not have been Edward Augustus, but another man who suffered from hemophilia. However, there is simply no reliable information that could confirm or deny this theory. Hemophilia was inherited from Victoria by her son Leopold and some of her grandchildren and great-grandchildren. Tsarevich Alexei Romanov also suffered from hemophilia.

Sometimes hemophilia is called the royal disease, since in the families of the royal nobility marriage with the next of kin was allowed. Therefore, it is not surprising that hemophilia so often struck precisely people who belonged to the royal family.

Hemophilia: Channel of Discovery - disease and death of kings:

Disease problem

Today about 400,000 people worldwide suffer from hemophilia. That is, every 10,000th man will have hemophilia.

Modern medicine offers such men drugs that can make their life long and fulfilling. A man will be able to start a family, work and study, that is, be a full member of society.

Hemophilia treatment is very expensive financially. So, every year about 12 thousand dollars are spent on one patient.

There is often not enough medical supplies for all patients, which is the reason for the early disability of such patients. Moreover, not only young people but also children become disabled.

There is also a risk of contracting hepatitis and HIV infection while receiving therapy, since drugs for treatment are made from donor blood.

In connection with such problems, scientists have developed synthetic preparations of VIII and IX factors that do not pose a threat to human health in terms of infection with dangerous diseases. However, their cost remains too high.

Video: Health secrets "hemophilia":

The author of the article: Shutov Maxim Evgenievich | Hematologist

Education: In 2013 he graduated from the Kursk State Medical University and received a diploma "General Medicine". After 2 years, completed residency in the specialty "Oncology". In 2016 completed postgraduate studies at the National Medical and Surgical Center named after N. I. Pirogov.