Symptoms, diagnosis and treatment of hereditaryhemophilia

Гемофилия у женщинHemophilia is a hereditary disease,
associated with impaired blood clotting. Carrier such
pathologies are women, but men are ill. In such patients
prolonged bleeding or uncontrolled
outpouring in organs. With the right treatment, a person can live to
old age, if it is absent – then a maximum of 10−15 years.

general description

The disease manifests itself in the form of low blood clotting, as
the consequences of this are bleeding. They can be like
spontaneous or provoked injuries, bruises or
surgery. This pathology is caused by
insufficient amount of protein in the blood. Bleeding can be
quite long, therefore dangerous to the patient’s life.

The peculiarity of the disease is that hemophilia
women are present only in the form of a gene, and such is diagnosed
pathology in men. There are about 60 cases in the world
hemophilia у девочек. One of the most famous carriers
The mutated gene was Queen Victoria.

Most often hematomas are formed on soft tissues. They can
occur even with the slightest impact. In some cases, may
appear suppuration. Hemorrhages in the joints are called hematites.
They can наблюдаться у пациентов в возрасте от 1 до 8 years old. More often
large joints are affected, for example, the knee or elbow,
the outpouring of blood in the shoulder and hip joints is extremely
seldom.

Frequent and repetitive outpouring in one joint is called
recurrent hemarthrosis. Frequency and intensity of such
pathological process depends on the severity of the pathology and
type of physical activity. When running and jumping on the spot at the patient
symmetrical hematomas on the knee joints may form.
After performing pull-ups, push-ups, hematomas form in
elbow and shoulder joints. In place of hematoma may occur
swelling and soreness. Without timely treatment of hemarthrosis
may be complicated by a purulent process in the joint capsule.

Как проявляется заболевания гемофилияHemophilia patients
hematuria may be observed – a deviation that occurs in
the presence of blood in the urine. This breach suggests
that there are problems with the work of the kidneys, bladder or
urethra If the patient has a predisposition to form
kidney stones, it needs to be constantly checked
urologist

Hematuria is most often diagnosed in children from the age of 5
years old. Lumbar injury can provoke such a violation.
or bruised.

Symptoms and Causes

The main symptom is heavy bleeding in the first months of life.
The patient may experience subcutaneous, intermuscular and retroperitoneal
hematomas caused by minor injuries. Have
newborns have the following symptoms
hemophilia:

  • large postpartum hematoma on the head;
  • profuse bleeding from navel wounds;
  • appearance of hemorrhages on the buttocks and in the area
    crotch;
  • hemorrhages during teething.

Have взрослых часто наблюдаются кровопотери через нос или десну.
Even with a slight bite of the tongue, bleeding can occur at 15–20
minutes

Развитие заболевания гемофилияBruises on the patient’s body
keep for a long period – about 2 months. With
time, they change their color from blue, purple to
golden. One of the most dangerous are hemorrhages in the eye.
and internal organs. Such processes may lead to blindness or
of death.

More often всего наблюдаются кровоизлияния в сустав, как следствие
this process – hemarthrosis occurs. Often affects the knee,
elbow, shoulder and hip joints. Have пациента возникает
swelling and pain in the affected area may increase
Body temperature. If the outpouring of blood occurs for the first time, then
clots gradually dissolve. With repeated outpourings they
remain, causing chronic inflammation, and lead to complete
joint stiffness.

Symptoms of pathology can evolve with age. Than
the earlier the pathology appeared, the greater the deficit of the factor. More often
total pathology is diagnosed at the age of 8−9 months.

До сегодняшнего дня причина hemophilia остаётся до конца не
studied. Предположительная причина отклонения — мутация
рецессивного гена
, который располагается на Х-хромосоме.
Thanks to him, the synthesis of anti-hemophilic factor. Boy,
the mother’s X-linked mutated gene becomes
носителем hemophilia.

In 80% of hemophilia is transmitted from the mother, but there are cases when
the mutated gene is present, but the parents were not its carriers.
Haveчёные сделали вывод, что в этом случае гемофилия возникает в
the formation of germ cells. This suggests that
that pathology can not only be hereditary, but also
arises independently.

Varieties of pathology

Hemophilia can be of several types: A and B. When the disease is type A
the patient is deficient in antihemophilic globulin.
Type B pathology is characterized by a deficiency of Christmas factor.
Previously stood out the third category of the disease – C. Due to the fact
that she has distinctive clinical features and the reasons for her
isolated in a separate disease – Rosenthal disease. In modern
медицине она не является разновидностью hemophilia. Practically
85% of patients have type A hemophilia, commonly referred to as
classic.

Depending on the severity of the clinical picture,
highlight the following classification:

  • severe;
  • moderate;
  • lightweight

Как лечить гемофилию у детейSevere disease
characterized by hemorrhagic syndrome, it appears even with
early childhood. Have пациентов возникают частые и спонтанные излияния
крови в суставы, мышцы and internal organs. Immediately after birth
such a child there is a prolonged bleeding from the umbilical cord
scion.

In the moderate stage, the plasma level can
vary from 1 to 5%. In this case, the pathology more often
diagnosed in preschool age. Hemorrhagic syndrome
moderate, there are effusions in the joints and muscles. Disease
exacerbated 2−3 times a year.

При лёгкой форме hemophilia уровень фактора не превышает 5%.
Pathology can occur only at school age, due to
injury or surgery. Blood loss rare and not
as intense as in other stages.

Probability and danger of deviation

Обследования при заболевании гемофилияProbability of development
pathology is caused by the presence or absence of mutated
gene from one of the partners who marries. If
relatives of both partners were not diagnosed with hemophilia,
the risk that it will be in a newborn baby is reduced to
the minimum.

If a man with hemophilia and a healthy woman entered into marriage,
then the boys born will be healthy. However, there is 50%
probability of pathology inheritance. Newborn girl will
bearer of a mutated gene, which she then passes on to her
children

From the point of view of the birth of healthy offspring, the most
an unfavorable union is a couple in which both a man and
woman have a mutated gene. Chance to give birth to healthy
the boy is 25%, and the birth of a girl without a dangerous gene
is impossible. There is also a high probability of miscarriage – about
25%.

Many believe that people with this pathology should be protected
even from small scratches, cuts and bites, as they can
lead to a big loss of blood. This statement is strong
exaggerated. Extensive injuries are life threatening
tooth extraction or surgery. The greatest
open wounds.

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Diagnosis of the disease

Hemophilia is quickly diagnosed due to its hereditary
character. A geneticist, pediatrician, neonatologist and
hematologist. If ребёнка присутствуют другие патологические
abnormalities, you may need to consult a neurologist,
traumatologist, otolaryngologist or gastroenterologist.

The following laboratory tests are performed for diagnosis.
research:

  1. Необходимые обследования при hemophiliaThrombin and
    prothrombin test. Determined by the time for which blood
    rolls up. Have пациентов с мутированным геном свёртывание длится
    longer than healthy.
  2. Coagulogram. The study allows you to set the concentration
    coagulation factors. Based on its results, the type is determined.
    hemophilia.
  3. Gene analysis. The procedure makes it possible to identify deviations in
    fetus.

Expectant parents are advised to undergo medical genetic
consultation at the planning stage of the child. Sometimes assigned
prenatal research that involves chorionic biopsy and
subsequent cell DNA research.

Haveстановить степень тяжести патологии и подобрать эффективное
treatment is possible only with a comprehensive examination of the patient.
Timely therapy will help save and prolong life
the patient.

Features of treatment

Прогнозы при болезни hemophiliaCompletely get rid of
pathology is impossible, therefore the basis of treatment is substitution
hemostatic therapy with appropriate factor concentrates
coagulation. The dosage is calculated individually based on
the severity of the disease, the severity of symptoms and types
bleeding.

Лечение hemophilia можно разделить на 2 направления: профилактика
and therapy during the development of hemorrhagic syndrome. With the aim of
prophylaxis 2-3 times a week, a concentrate of factors is introduced. is he
prevents the development of hemophilic type arthropathy and other
видов bleeding.

When a hemorrhagic syndrome occurs, the drug is injected.
re. Additionally, fresh frozen can be used.
plasma, hemostatics and erythromass. Suturing, holding
surgical intervention can be carried out only when
hemostatic treatment.

Причины развития заболевания

To eliminate light external bleeding due to a cut
or scratches using a hemostatic sponge and a pressure bandage.
The wound is treated with thrombin.

If there is a slight hemorrhage, then the patient needs
provide complete rest and immobilize the affected
the joint. AT дальнейшем врач может назначить ЛФК, HaveATЧ, лёгкий массаж
and electrophoresis.

Nutrition Tips

При hemophilia не назначается диета как таковая. However, there is
some recommendations you need to stick with. In the daily
high-salt foods must be present
phosphorus, calcium and vitamins C and D. It is important that the body
got enough vitamin K because it promotes
blood coagulation. It can be obtained from tomatoes, cucumbers,
spinach, cabbage, garlic, bananas, carrots, onions.

To improve the overall condition of the blood, strengthen the walls of blood vessels and
снизить уровень холестерина, нужно употреблять следующие
Products:

  • Питание при hemophilialiver;
  • citrus;
  • avocado;
  • buckwheat;
  • apple and beet juice;
  • beet;
  • Garnet;
  • cranberry juice;
  • fatty fish varieties.

Beet juice is recommended to dilute carrot or apple.
The concentration of beet juice should constantly increase. For patients
should drink tea from currants, raspberries, viburnum and decoction
rose hips.

Patients with haemophilia disease must completely abandon
fatty foods. This is due to the fact that its composition is present.
large amounts of cholesterol. Fats block the normal process
calcium absorption. Grilled and smoked dishes contain
substances that have a negative effect on the composition
blood.

Energy drinks and alcohol completely destroy the uniform
элементы blood. Fast food and semi-finished products form heavy
compounds that poison the body.

Forecast and preventive measures

Опасности при болезни гемофилияWith long replacement
treatment, antibodies are formed that block procoagulant
activity of the input factors, and this leads to the fact that therapy in
habitual doses become less effective. Therefore, the patient
immunosuppressants are prescribed and plasmapheresis is performed.

Due to the fact that the patient is often transfused,
high risk of HIV infection, herpes and hepatitis.
Hemophilia has no effect on mild
lifespan.

Among the preventive measures necessary to highlight
Genetic counseling couples when planning
of pregnancy. It is also practiced before the introduction of antihemophilic
medicines at home. Before any operational
patient intervention should consult with a hematologist. AT
especially severe cases are recommended prophylactic injections
концентрата факторов свёртывания blood. is heи проводятся несколько
once a month.

Лечение заболевания гемофилия

Methods may be used to prevent bleeding.
traditional medicine. However, before use it is necessary
consult a specialist for their safety. Sick
can use a decoction of nettle, grape seed extract
or decoction based on dandelion root, yarrow. Such
folk remedies help strengthen the walls of blood vessels and improve
качество blood. Due to the fact что в состав таких препаратов входят
herbs, an allergic reaction is possible, so before use
it is necessary to ensure its absence.

ATозможные осложнения и последствия

Больные гемофилиейWithout timely and proper treatment
possible death. Death happens by reason
cerebral hemorrhages and important organs. is heо может возникнуть
due to severe injury, intramuscular injection or surgical
interventions.

When hemorrhages in the joints may develop their immobility.
Complications can also occur with the locomotor system.
apparatus. Large outpouring of blood in the soft tissue of the neck, pharynx and pharynx
lead to stenosis of the upper respiratory tract and, as
a consequence – to oxygen starvation.

Renal bleeding can become chronic. With
time it threatens the development of secondary infection and amyloidosis
kidney, which ends with the death of the organ.

Hematomas have a predisposition to ossification. AT мягкой ткани
a condensation forms that causes painful
sensations.

The greatest risk for a child with hemophilia is
early postpartum period. However, during labor also
there is a greater likelihood of retinal hemorrhage or
brain.

Hemophilia Society

Общество больных hemophiliaATо многих странах мира создаются
special societies for patients with hemophilia. Such организации
unite scientists who study pathology, doctors, patients, their
family members and just people who want to help.

On the website of such organizations and funds, the patient can receive all
necessary information on the specifics of the disease, on legal
materials, as well as chat with people who have the same
diagnosis and get moral support. Withздатели таких обществ
organize various social events aimed at
adaptation of such people to normal life.

Hemophilia is a dangerous hereditary disease that, without
proper maintenance therapy can result in lethal
to the end ATажно вовремя заметить признаки патологии у новорождённого.
Полностью вылечиться от такого заболевания is impossible. Should
remember that pathology can be inherited, so before
planning a pregnancy is better to go extra
examination.

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