Definition


Hemophilia is a hereditary disorder that inhibits the blood from correctly coagulating and is therefore characterized by the development of bleeding, which, in some circumstances, can be severe and endanger the lives of those who are affected. A group of inherited bleeding disorders characterized by a lack of blood clotting proteins. Hemophilias are rare. Hemophilia A affects 1 in 5,000 to 10,000 boys; hemophilia B occurs in about 1 in 30,000 boys.

It is an acquired draining problem, connected to the X chromosome. DNA is contained in structures called chromosomes, which are found inside cells.

A gene is a unit of DNA information that tells cells how to make the proteins they need to function properly. It contains instructions. The X chromosome is home to many genes, including several that are involved in blood clotting.

Because of this, the hemophilia gene—a defective gene—is passed on to offspring by the woman who bears it. Since the male offspring obtains the other portion of the father's genetic material, which supplies the Y chromosome, she only has the damaged gene on one of her two X chromosomes. As a result, the son has a 50/50 chance of receiving that maternal X chromosome with the defective gene.

However, hemophilia is not always hereditary: in 33% of cases, according to the World Federation of Hemophilia (WFH), it is caused by a genetic mutation, with no family history.

Coagulation factors VIII and IX

When bleeding occurs in normal circumstances, the hemostasis process begins, which aims to maintain the blood's fluidity and confinement within the blood vessels. Initially, this process involves the contraction of the blood vessel and the formation of a plug by blood cells known as platelets that adhere to the injured blood vessel's wall. The blood clotting process, which requires so-called coagulation factors, begins when the platelets attract additional platelets.

From I to XIII, there are 13 coagulation factors involved. Normal levels of factor VIII and IX in the blood are 50% to 150%, but in a person with hemophilia their levels are too low or they don't even have one of these factors.

The amount of the clotting factor in a person's blood determines how severe their hemophilia is.

This disorder affects one in ten thousand births. In the world, according to the estimates of the World Federation of Hemophilia (WFH), there are approximately 400,000 individuals with this disease. In Spain, this disorder affects between 2,500 and 3,000 people, according to the Spanish Agency for Medicines and Health Products (AEMPS).


RATIONALE

 There are two main types: hemophilia A (in which blood clotting factor VIII:C is either missing from the circulation or defective) and hemophilia B (in which clotting factor IX is missing or defective). Both of these disorders are sex-linked (ie, due to mutations on the X chromosome) and occur only in boys.

Hemophilia A: Also called classic hemophilia, this condition is characterized by a lack of factor VIII. It accounts for 80%–85% of the cases.

Hemophilia B: The condition known as "Christmas disease," is caused by a factor IX deficiency.

Furthermore, the sickness can be categorized as follows depending on the amount of the component in the blood:

Mild: Between 5% and 40% of the amount of the factor are produced by the patients.

Moderate: from 1% to 5%.

Severe: In this case the patient has a factor level of 1% or less.


SYMPTOMS

Bleeding after blunt trauma is the hallmark of hemophilia. Typically, bleeding occurs in the joints (hemarthrosis), soft tissues, and the urinary tract. Bleeding can also occur during dental procedures and operations. Intracranial bleeding and bleeding deep in the body can be life-threatening.


Where and why are they produced?

The vast majority of the draining endured by hemophiliacs is inward that may not be observable 100% of the time. They typically occur more frequently in "hinge" joints like the elbow, knee, and ankle. Then, these joints might hurt, get bigger, get hotter, or have trouble moving normally.

Another common location is bleeding that occurs in the muscles of the arm, particularly in the upper portion or forearm. In these cases, the muscle may likewise throb or there might be an expansion in temperature nearby or a sensation of deadness or shivering, as though it were "sleeping".

The patient's life may be in jeopardy if the bleeding occurs within the skull, neck, throat, or digestive tract.

However, not all bleeding is internal: It can happen through a wound or a natural opening in the body, like the nose, mouth, or ears.

In any case, these hemorrhages can be caused by trauma or surgical intervention, or they can also appear spontaneously for no apparent reason.


Some suggestions for managing hemophilia

Most hemophiliacs have quite typical lives, however they must adhere to a number of prophylactic measures:


1.develop your own clotting factor.

It will strengthen your autonomy and control over your disease, but it should always be carried out in accordance with the self-treatment protocol prescribed by healthcare specialists. Perform the recommended routine health examinations, and of course, visit your doctor if you have bleeding or notice any complications.

2. Quickly treat bleeding.
Make sure you always have factor on hand, and use it right away if you experience mild to moderate bleeding. Go to the hospital as soon as you can during the first two hours of the bleeding, especially if it is more severe.

3. Exercise but stay away from contact sports.

Regular physical activity makes muscles stronger, which in turn protects the joints. While team activities involve some danger and contact sports like boxing or rugby should be absolutely avoided, sports like swimming, hiking, and cycling are particularly acceptable. Following structured sports programs is preferable than participating in unstructured activities when necessary safety gear and supervision may not be available. In any case, you should constantly guard the joints that are most susceptible, such the knee, elbow, or ankle.

4. Take care of your weight. 

A healthy weight is important to maintain since carrying extra pounds strains the body and puts more strain on the joints.

5. Consume iron-rich meals.
to assist you in making up for any inadequacies that blood loss can result in. Iron may be found in foods like red meat, lentils, and shellfish like mussels. Foods high in protein, copper, vitamin C, E, B6, B12, and folic acid should also be consumed. Vitamin K, which is crucial for the coagulation process and abundant in foods like broccoli, spinach, and Brussels sprouts.

6. Be mindful about prescriptions.
Always avoid acetylsalicylic acid (aspirin) and non-steroidal anti-inflammatory medicines (NSAIDs), including ibuprofen and naproxen, and see your doctor before taking any medications for minor discomfort.







TREATMENT

Deficient clotting factors can be replaced intravenously, but this carries significant risks. In 1980, for example, the administration of contaminated agents transmitted hepatitis C and human immunodeficiency virus to many patients with hemophilia. Before these epidemics, these patients had a life expectancy of about 65 years. Acquired immune deficiency syndrome and other blood-borne infections reduced the average life expectancy of patients with hemophilia to about 50 years. Today, the clearance of clotting factors has led to a safer management of patients with hemophilia.

Other agents that help blood clot, such as desmopressin and heaminocaproic acid, also help treat or prevent bleeding episodes.

CAUTION: Patients with hemophilia should avoid drugs that interfere with anticoagulation and should avoid sports or other activities in which there is a high chance of injury. In addition, they must wear special bracelets identifying their disease from the medical staff.


PATIENT CARE: In the bleeding patient, monitor vital signs and monitor the patient for signs and symptoms of decreased tissue perfusion (ie, restlessness, anxiety, confusion, pale, cold, clammy skin, chest pain, decreased diuresis, hypotension, tachycardia).Emergency care is provided for external bleeding; wounds are cleaned; and gentle, steady pressure is applied to stop the bleeding. Safety measures are taken to prevent injury and the patient and family are instructed on these measures. The patient is assessed for the development of hematoma and appropriate care is provided, which includes elevation of the affected limb, immobilization of the joint in a slightly supine position, and intermittent application of ice. Depending on requirements, administer missing clotting factors or plasma as directed until bleeding is controlled. The patient is monitored for adverse reactions to blood products such as erythema, headache, pruritus, fever, chills, urticaria, and anaphylaxis. Movements of the injured limb are limited and exercise and weight lifting are prohibited for 48 hours until the bleeding stops and the swelling subsides. Mild passive flexibility exercises are then performed with a gradual progression to actively assisted and then active exercises. Monitoring and treatment of intracranial, intramuscular, subcutaneous, renal, and cardiac bleeding are carried out in accordance with protocols or under the hematologist's guidance. Fluid balance is closely monitored in emergency situations and adequate fluid replacement is performed as needed.

Both the patient and their family are encouraged to express their fears and concerns and are provided with accurate information, realistic reassurance and emotional support. Healthcare professionals stay with the anxious or fearful patient or family. Gentle, careful but thorough oral hygiene is provided with a soft toothbrush or sponge swab to prevent gingival inflammation and bleeding, and the patient is instructed in this method. Regular dental checkups are recommended. The application of safety measures to protect the patient from injury is encouraged, while unnecessary restraints that impede normal development are discouraged. The patient must remain independent and self-sufficient; help is provided to both the patient and family to recognize which activities are safe. Techniques for dealing with bleeding episodes at home are taught. The use of transfusion therapy is explained and information is provided on all available methods of delivering this therapy (including how to administer cryoprecipitate at home, if appropriate). The severity of head injuries and the need for immediate treatment are also explained. Recreational activities and personal time with family and friends are provided to help the patient overcome feelings of isolation. The knowledge of the patient and his family about the disease and its treatment, as well as the effect it has on the patient, his siblings and the marital relationship of his parents, are assessed. The patient and family are encouraged to talk to others in a similar situation through local support groups and services and are referred to the National Hemophilia Foundation for further information.