Hemophilia is a congenital hereditary disorder. It is undoubtedly the most famous among genetically determined blood diseases.
Hemophilia is expressed in elevated bleeding. whether it is as a result of external, even the smallest damage, or internal bleeding in tissues, joint capsules, etc. Trauma that causes almost non-stop bleeding can be minor.
This blood disease has critical consequences for internal organs and joints. causing concomitant illnesses and deviations.
Causes of haemophilia
Scientists attribute hereditary components to the main reasons provoking the development of hemophilia. Genetically defective blood clotting is inherited from generation to generation.The carrier of the defective gene is exclusively the female organism.
The affected person with hemophilia is usually a man. In fairness, it is worth noting that there are scientifically described cases of hemophilia in women. Still, these cases are sporadic and happen when both parents of a sick girl are carriers of the damaged gene.
Passing the illness on to her youngsters, the female conductor herself remains healthy, her sons are doomed to hemophilia, and her daughters additionally turn out to be carriers of the hidden gene until they pass it on to their children. Therefore, there is only one way to interrupt the pathological chain, to use the slightly cruel advice of geneticists and carefully plan the birth of future offspring.
By the recommendations of modern geneticists, female carriers shouldn’t have children at all, and only sons. should be born in the families of males with hemophilia and healthy girls, pregnant girls are offered to undergo an artificial termination of being pregnant.
Currently, scientists have not but found a way to eliminate the cause of hemophilia. Today, unfortunately, it is not but possible, because it’s embedded in the human genetic code. A patient with hemophilia has no choice but to study to live with this disease and get used to the fact that his body needs particular precautions.
Disorders Caused by Hemophilia
Blood clotting is a complex biochemical process in which fibrinogen. The protein contained in plasma, modifications its structure. This occurs under the influence of various factors, among which the release of tissue thromboplastin is essential. Thromboplastin formation happens with the assistance of quite a few substances that are present in small portions within the blood. One of them, factor VIII, or antihemophilic factor (AGF), is absent or insufficiently current in these affected by hemophilia. The term hemophilia means, in fact, two diseases with the same symptoms, however different causes of occurrence.
There are two types of hemophilia, namely:
Hemophilia A, or classic hemophilia
Hemophilia B, or Christmas disease
Hemophilia C is a scarce species that mainly affects Jews.
The second kind is less common. Type A lacks factor VIII, while hemophilia B is referred to as factor IX, or plasma thromboplastin called Christmas factor. It is also essential for blood clotting, and it becomes nearly impossible in the absence of it.
The third type arises from the lack of factor XI. Due to the non-standard clinical image, not so long ago, this type was isolated separately and is not included in the kind of hemophilia.
What has acquired hemophilia?
Hemophilia is inherited. However, there have been cases when the manifestations of this disease were observed in adults who had not been sick earlier than and didn’t have sufferers within the household. Acquired hemophilia is all the time a type of type A.
In half of the cases, doctors have not been able to perceive the cause of the disease. In other circumstances, most cancers, sure medicines, and different objects that defy classification were triggered.
Signs, symptoms, diagnosis and clinical presentation of hemophilia
The clinical picture is characterized by an increased tendency of patients with blood loss. Already just a few days after birth, continuous bleeding may appear, which endangers the life of the newborn. But in some cases, hemophilia solely appears when the child starts running.
The mother and father could observe an increased tendency to bruising, and bleeding in the skin and mucous membranes after commonplace microtraumas. For example, light shocks, wounds, etc. which speaks of this blood disease.
At this age, nosebleeds or bleeding of the oral mucosa (teething) are also frequent. In older children, profuse bleeding follows after tooth extraction or tonsillectomy. These are the first indicators of hemophilia. Bleeding can also occur in internal organs such as the liver, spleen, intestines, kidneys, and brain.
In this case, they speak of hemophilic arthropathy or hemarthrosis. As a result of such intra-articular bleeding, particularly in the knee, there is a risk of destruction of bones and cartilage and a significant restriction of movements of the affected joint.
Hemophilia is a disease in which symptoms can differ in intensity. The severity of symptoms is proportional to the severity of the genetic defect. If this issue of blood clotting is absent, then the patient is in extreme danger. In severe cases, dying happens already in early childhood due to cerebral hemorrhage, too much blood loss after wounds. Or even as a result of blood accumulates in the neck, and this leads to suffocation.
The grown-up child is more and more aware that he’s sick, and learns to control his activity, if possible, to avoid accidents and injuries. If young patients survived early childhood. Then they can rightfully hope for long, lively life.
It is impossible to foresee more precisely how the disease will develop over time. For example, infections can further exacerbate bleeding tendencies. Sometimes you can observe a clinical course, which is characterized by the presence of several phases.
|Medical Image of Hemophilia|
There is a period when injuries cause only mild blood loss or even no bleeding; then again, there comes a time when extensive, practically unprovoked bleeding occurs. Those. Hemophilia and its symptoms can manifest in waves.
Different specialists diagnose Hemophilia – first of all, it’s necessary to visit a pediatrician who can prescribe a referral to a hematologist, neonatologist, genetics, etc. In case of concomitant complications and pathologies, it is necessary to contact the appropriate specialists. The diagnosis is made after a series of laboratory and genetic tests.
Signs of hemophilia
To clarify the diagnosis, tests may be required: determining the amount of fibrinogen, determination of the prothrombin index, commitment of thrombin time, definitions of mixed.
Couples who expect a baby and are at risk should consult with specialists and conduct relevant research from the beginning and throughout the pregnancy.
Hemophilia cannot be cured; a patient who suffers from this blood disease has to fight all his life with symptoms and caused pathologies. That is, hemophilia is an incurable disease.
It would be irresponsible not to explain to the parents of a kid with hemophilia how harmful it is. However, they should not assume that their child is lost. Today, even a person with this disease has the opportunity to guide an almost healthy life.
Replacement therapy is needed to control bleeding tendency. This means that the missing clotting factor must be replaced by external injection. This can be done by infusion of plasma or whole blood or concentrating on the issue (VIII or IX) itself.
The clotting factor must be administered as soon as possible when bleeding occurs. In some countries (USA, Scandinavia), many patients give themselves intravenous injections of plasma concentrate as soon as they notice the slightest bleeding.
Even before contacting the nearest specialized medical centre. Since it’s challenging to obtain a sufficient quantity of factor VIII, recently, there has been an active search for genetic engineering methods.
Another possibility is agents that directly stimulate the formation of factor VIII in the patient’s body.
The named therapeutic possibilities ensure the secure conduct of small (tooth extraction, etc.) and large surgical operations in people with hemophilia. Orthopaedic treatment can be necessary since all kinds of damage to bones or parts of joints are prevalent. They should be warned.
That is, hemophilia is an incurable illness.
It would be irresponsible not to explain to the parents of a child with hemophilia how dangerous this disease is. However, they must not think that their child is lost. Today, even those with this disease can guide an almost healthy life.
Also, correct physical and mental education is critical so that hemophiliacs do not become groups of rejected people in society because they cannot withstand everyday life.
Patients with hemophilia develop chronic arthropathy due to repeated bleeding in the joint cavity. This is the most important complication of this hereditary disease.
Most often, it affects one of the knees, sometimes both, and can significantly limit the patient’s motor ability. These symptoms can be improved through the systematic use of plasma concentrate, which will dramatically reduce the manifestations of bleeding in the joint.
But even today, many patients with hemophilia suffer from the so-called hemophilic joint. For some unfortunate patients, the only way to heal their malaise is synovectomy (removal of the joint’s synovium. The pathological change of which as a result of bleeding becomes the leading cause of hemophilic arthropathy. After such an intervention, some of the hemophiliacs were able to return to an almost healthy life after immobility.
In childhood, an informed choice of toys and activities can be extremely vital in preventing traumatic episodes. At school age, patients with hemophilia can, without particular exceptions, participate in the normal educational process. He should not withdraw from any of the activities of other children. He mustn’t feel inferior suffering from his illness so that he can lead an independent life later.
Throughout life, hemophiliacs adapt to their illness. He knows what restrictions she imposes, reckons with them, and accordingly plans his activities. Most often, people with hemophilia have intelligence above average.
Forecast and prevention of hemophilia
Long-term substitution therapy leads to isoimmunization, the formation of antibodies that block the procoagulant activity of the introduced factors, and the ineffectiveness of hemostatic treatment at usual doses.
In such cases, an affected person with hemophilia undergoes plasmapheresis, and immunosuppressants are prescribed. Since sufferers with hemophilia experience frequent transfusion of blood components, the risk of infection with HIV, hepatitis B, C and D, herpes, cytomegaly is not excluded.
Mild hemophilia does not affect life expectancy; with severe hemophilia, the prognosis worsens with massive bleeding caused by operations, trauma.
Prevention involves medical genetic counseling for married with a family history of hemophilia. Children with hemophilia must always have an individual passport with them, which indicates the type of illness, blood group, and Rh-affiliation.
They are shown a protective regime, prevention of injuries, dispensary supervision of a pediatrician, hematologist, pediatric dentist, pediatric orthopedist, and other specialists; observation in a specialized hemophilic centre.
Every year, World Hemophilia Day is celebrated under a new motto that focuses on a particular problem associated with this disease.
And although today, thanks to doctors and scientists’ efforts and international organizations to fight hemophilia, this disease is no longer a “death sentence” for a patient. It’s still impossible to stop there – this is what World Hemophilia Day reminds mankind of.
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Video Courtesy: CSL Behring