Genetic diseases



Hemophilia photo Hemophilia - a pathology, which is inherited from generation to generation and is characterized by reduced blood clotting.Exclusively women are agents of hemophilia, and suffer from it, mostly men.

are two main types of hemophilia.At the heart of this pathology lies defeat gene female sex chromosome, which is responsible for the formation of antihemophilic globulin (factor VIII) and the Christmas disease (factor IX).There is still hemophilia C, which is characterized by a deficiency of factor XI.This type of hemophilia is very rare and occurs in 5% of cases in women.Since hemophilia is based bleeding as a result of congenital pathologies, it lasts much longer than in healthy people.

Hemophilia causes

hereditary factor is the main reason, which provokes the development of hemophilia.The diagnosis of paying special attention to a history, gematomnom type of bleeding and laboratory tests.

Hemophilia is transmitted at the genetic level and is characterized by defective blood clo

tting.When diagnosing special attention to the time clotting platelets.Severe forms of hemophilia are characterized by a longer duration of time and reducing the consumption of prothrombin.If a defect in a patient blood plasma can be eliminated, which has previously passed adsorbing barium sulfate, and then detect the presence therein antihemophilic factor, factor IX - absent, exhibiting hemophilia A. When diagnosed pathologic disorder in the blood serum can be eliminated by normal, then diagnoseThe second type of hemophilia (B).

Hemophilia two types, A and B, is inherited X stseplёnnym recessive type.Women tend to have two X-chromosomes and men - only one.So when the boys get an X-linked gene is damaged by the mother, then they can not replace any other chromosome, because they have only one Y-chromosome.Therefore, hemophilia and affects mostly boys, then passed them to his future daughters who are carriers of the affected gene.Studies show that almost 80% of mothers whose sons have hemophilia, are agents of the disease.Only in very extreme cases, hemophilia affects women.

In addition, when examining a certain percentage of mothers of those boys who suffer from hemophilia, have not found a mutation of genes that meant their defeat already in the process of formation of the parental germ cells.Thus, the genetic abnormality may occur in the absence of the parents genes carrying hemophilia.

Therefore, to completely break the chain of pathological, must be applied fairly hard Council geneticists and carefully plan for the future offspring.Using the recommendations of modern medical genetics, female carriers of the affected gene, generally can not bear children.Especially families with hemophilia men and women are healthy, it is desirable to give birth only to boys.And for pregnant girls, women, offer to conduct the procedure of abortion.

Currently scientists are developing methods of solving problems, which could in the future to remove the cause of hemophilia.But while it is very difficult to do, because everything is at the genetic level, ie in the human gene.Therefore, patients must learn to live in a society with such a disease, and always to be very cautious and careful in respect to itself.Because aching hemophilia may increase sharply danger to the patient's death as a result of bleeding into the meninges or other authorities, no less important, even at the slightest injury.

hemophilia gene

lately made significant discoveries in the biochemical field of hemophilia, which help monitor, diagnose and treat hemophilia.

Today it is proved that the deficient Factor VIII, present in hemophilia A, and located on the high molecular vWF point (B), differ, and enzymes found in the blood as unbound complexes.The content quantity of factor VIII in plasma is much lower than of factor B, and therefore it is a carrier protein necessary for the secretion of very antihemophilic globulin and protect it from destruction.More

in 1984 scientists geneticists have identified a gene that is responsible for the formation of factor VIII and found its structure.It is on the arm of the X chromosome, which is composed of twenty-six and twenty-five exons introns.This gene is known as one of the biggest human genes.Its structure contains three type A domain, two domains and one C domain B, which are rich in carbohydrates.It antihemophilic globulin (F VIII) fulfills a major role in clotting as a non-protein substance and thus accelerates the action of factor X.

gene which is located on the long arm of the X chromosome in section IX, it is a consequence of hemophilia B, andalso produced in the liver, with the participation of vitamin C. As a result of deficiency of activity of both factors and there is a bleeding disorder that is a consequence of prolonged bleeding.

Thus, it can be concluded that the gene encodes HEMA antihemophilic factor A, which is fixed on platelets and is synthesized in the liver with vitamin K and participates in the formation of thromboplastin.At Christmas disease (hemophilia B) deficit tromboplasticheskogo plasma component also results in poor blood clotting.

Signs Hemophilia

Clinical manifestations of hemophilia A do not differ from the second type of hemophilia B. This disease is characterized by symptoms of bleeding as bleeding into the joints of limbs, subcutaneous, intramuscular and intermuscular hematoma, heavy bleeding prolonged nature of trauma, after manipulation.Less frequently observed bleeding from the gastrointestinal tract, intracranial hemorrhage, retroperitoneal hematoma, hematuria, and hemorrhage into the abdominal cavity.

for hemophilia are characterized by age-related disease symptoms.In a very difficult time when a child still in the maternity ward, and traced kefalogematomy umbilical bleeding wounds.

Often the first symptoms of hemophilia are detected due to hemorrhage, which appear after the manipulation in the form of injections, biopsies, surgeries.

first manifestations of bleeding into joints can be traced when the child starts to crawl and then walk.The first to suffer knees, elbows, shins and feet, less exposed to the defeat of the hip and shoulder joints.But hemarthrosises occur, usually without visible injuries, but the joints become painful, hot, stiff and bent.Pain prevents movement.

bleeding into joints, seemingly harmless.The blood is reabsorbed gradually disappears edema and restores joint function.When X-ray changes are observed.But after such frequent bleeding joint capsule thickens and changes color.Next, it increases the inflammatory process.At a later date arthropathy expressed characteristic fibrosis capsule and soft tissues that surround the joint, which leads to limitations in its mobility.Articular cartilage is changed, and after repeated haemorrhages collapses under the action of an active enzyme and collagenase.In very severe forms of arthropathy completely lost mobility, ankylosis.And if you do not use replacement therapy, the patient faces a wheelchair or crutches.

Various diseases are often the cause of bleeding from the gastrointestinal tract.The most common among them are the different types of erosion in the stomach and duodenum, as well as the expansion of varicose veins in the esophagus and hemorrhagic components, which can be provoked by the intake of non-steroidal drugs.Sometimes such bleeding can occur spontaneously.

But heavy bleeding kidney pose serious therapeutic problems that are diagnosed in patients with hemophilia.They are found in almost 20% of patients.These types of bleeding arise unexpectedly, and as a result of injuries in the lumbar region, with existing pyelonephritis, and after taking aspirin or non-steroidal drugs.

During hematuria patient manifested seizures associated with urinary disorders and severe pain in the lumbar region, which resulted in the urinary tract form clots that may cause hydronephrosis.Everyone knows that such renal gemofiliticheskie bleeding is much more difficult to treat than hemorrhage in other locations.

Hemophilia children

patients with hemophilia children disorders associated with platelet function is not fully understood.For the clinical picture of hemophilia are characterized by typical in the flow and repeatedly recurring hemorrhage as hematomas and hemarthrosis.Basically, the first symptoms of hemophilia in the severe form appear in most children until the end of the first year of life.But in recent years, thanks to the use of prenatal diagnosis using the equipment up to date, more often began to diagnose fetal abnormalities before birth.

the first place in the clinical picture of the newborn are bleeding that emerge from the umbilical wound sites after injection, as well as small hematoma, then appear under the skin and mucous membranes at different sites.

for joint hemorrhages characteristic age two or three years.Some young patients at the same time hemarthroses and bruises marked petechiae or ecchymosis, which appear suddenly or during slight physical activity, which is not typical for hemophilia.

Preschool children and school often complain of bleeding from the gums and nose, which are recurrent in nature.And there are occasional hematuria.

hemarthrosises (extensive bruising) are common problem of sick children who develop chronic synovitis, arthropathy and contracture.Therefore, these children prohibit any statement of intramuscular injections, as this may lead to manipulation is not very intense, but at the same time, a long time does not stop the bleeding.Do vaccinations and medications administered subcutaneously, preferably only, using a thin needle.

During internal bleeding in the stool of the child, when studies show blood.And it is already talking about starting anemia patient.In young children, bleeding associated with urinary tract are rare, but the frequency of occurrence of hematuria sometimes increases with age.In addition, there are bleeding and in internal organs.

rare, but deadly considered bleeding in the lining of the brain, which can cause the development of the child severe organic lesions of the central nervous system.It is characterized by a predominance of excitation over inhibition.These children behave undisciplined and can misbehave.According to external data they have frail physique and they reduced appetite.Internal organs do not change at the moment is bleeding.

With age, children often develop complications.And all this is due to a reduced immune response as a result of the underlying disease.Hemophilia can cause hemolytic anemia, leukopenia, thrombocytopenia, and renal inflammation, rolling in renal failure, but it is a disability.

Hemophilia women

This kind of disease is extremely rare among girls and women, so the clinical descriptions of hemophilia in women very little.

Hemophilia at the fairer sex only occurs when patients father and mother gave the girl the affected gene.Theoretically, such parents can give birth in the same ratio as the girl-conductor of the disease, and the girl with clear clinical symptoms or sick boy with hemophilia, and on the contrary, absolutely healthy.

to one of the most common pathologies of blood coagulation in girls and women rank as von Willebrand's disease is about one percent of patients.Basically this US women.

Hemophilia women indicates deficiency of von Willebrand factor, which should produce a special protein that is essential for blood clotting.There are other types of violations that lead to bleeding.Syndrome Turner is diagnosed when there is an opportunity to identify monosomy of the X chromosome complete or partial form.But Klinefelter's syndrome is put in the determination of rice.

Since hemophilia mainly occurs in four clinical forms, such as light level, erased, moderate and severe, the girls and women reveal only a slight for the disease.Such women have a tendency to nosebleeds, they occur abundantly menstruation.As well as minor surgery, such as tonsillectomy or tooth extraction can lead to difficult to stop bleeding.

Hemophilia men

bad blood clotting boys passed by healthy mothers, who are the conductors of pathologically altered gene.

first manifestations of hemophilia parents notice in childhood and are characterized by slight bleeding, which can occur after different types of injury.This may be injuries, tooth extraction, and others. But the bruises already indicate a serious bleeding under the skin and muscles.Such hematomas cause tissue necrosis due to compression of blood vessels, which bring them food.Ranked in their infection, can cause serious illness such as sepsis.Hemorrhage, which lead to necrosis of bone take place in bone tissue.Sometimes bruises can be very large and cause gangrene or even paralysis.

When conducting any surgical procedure, the patient is administered hemophilia necessarily antihemophilic drugs to prevent severe blood loss.

considered dangerous hemorrhage in the meninges, which, as a rule, become the cause of a patient's death or severe form of CNS.

most difficult bleeding men considered retroperitoneal that stimulate the occurrence of acute surgical diseases in the peritoneum.Most developing hemorrhagic anemia observed after gastrointestinal, nasal bleeding, as well as urinary tract and gums.

hemarthrosises, ie joint hemorrhage, usually accompanied by fever higher 38˚i their tenderness.Often recurrent bleeding into joints can become a cause of osteoarthritis, but it leads to restriction of movements in all the joints and muscles of the limbs atrophy, which can then lead to a wheelchair.Initially affects the joints of knees and elbows, and then the smaller ones.

Also dangerous are bleeding from the mucous membranes in the throat or larynx.This often occurs during coughing, screaming and even strained vocal cords, resulting in obstruction of the airways.

Hemophilia Treatment

highlight in the treatment of hemophilia patients is the ability to compensate for a lack of clotting factor.Sometimes, surgical intervention, is essential for the treatment of complications that may be caused by hematomas, hemarthroses and contractures.All of these surgeries require a special approach.

treatment of hemophilia, it is important to start already at the first signs of bleeding.If it will be started later, it is necessary to use certain specialized treatment.

Immediately hemophiliacs introduced native or lyophilized plasma, whole blood, or drugs containing concentrates of factors VIII and IX.To achieve the required level of antihemophilic factor in the blood must be in sufficient volumes to enter the plasma and blood.But certainly important to consider that they should not exceed 25 ml / kg of body weight per 24 hours.

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