Hemophilia

Hemophilia

Hemophilia is when the blood does not clot

Hemophilia is a genetic disease that prevents the blood from coagulating properly and, therefore, is characterized by the appearance of bleeding that, in some cases, can be significant and compromise the lives of the affected people.

It is an inherited bleeding disorder, linked to the X chromosome. Chromosomes are structures found inside cells that contain genetic material, called DNA.

A gene is a unit of information from that DNA and contains instructions that order cells how to make the proteins necessary for the proper functioning of the organism. The X chromosome contains many genes, including some related to blood clotting.

For this reason, it is the mother who carries the hemophilia gene (a faulty gene) who passes it on to her children. She has the defective gene on only one of her two X chromosomes, and the son has a 50/50 chance of inheriting that maternal X chromosome with the defective gene since the male offspring receives the other part of the father's genetic material. , which contributes to the Y chromosome.

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

Under normal conditions, when bleeding occurs, the process of hemostasis begins, the purpose of which is to maintain the blood within the blood vessels and the fluidity of the circulating blood. This process occurs in different phases, initially involving the contraction of the blood vessel and, at the same time, blood cells called platelets, which adhere to the wall of the injured blood vessel and form a plug. The platelets then attract more platelets and the blood clotting process begins, in which so-called coagulation factors are necessary.

There are 13 coagulation factors involved, numbered I to XIII. Normal levels of factors 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 severity of hemophilia depends on the levels of the clotting factor present in the sick person's blood.

One in ten thousand born

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 World, this disorder affects between 2,500 and 3,000 people, according to the World Agency for Medicines and Health Products (AEMPS).

Hemophilia A, the most common

There are two main types of hemophilia:

· Hemophilia A: Also known as classic hemophilia, it consists of factor VIII deficiency. It represents between 80%-85% of cases.

· Hemophilia B: also called Christmas disease, involves a factor IX deficiency.

Furthermore, according to the level of the factor in the blood, the disease can be classified as:

· Mild: the patient produces between 5% and 40% of the amount of factor.

· Moderate: from 1% to 5%.

· Severe: You have a factor level of 1% or less.

The main symptom: is persistent bleeding

The most common symptom of hemophilia is a tendency to bleed, the frequency of which depends on the level of factors VIII or IX in the blood, and whose severity is conditioned by the volume of bleeding or its location in the body, among other aspects.

Where and why are they produced?

Most of the bleeding suffered by hemophiliacs is internal, although it is not always noticeable. They tend to occur more frequently in the "hinge" joints, such as the knee, ankle, and elbow. Then, these joints can hurt, present an increase in size or temperature, or even difficulty moving normally.

Another frequent location is bleeding that appears within the muscles of the arm, specifically in the upper part or in the forearm. In these cases, the muscle may also ache or there may be an increase in temperature in the area or a feeling of numbness or tingling as if it were "asleep".

If the bleeding occurs inside the skull, neck, throat, or digestive tract, the life of the hemophiliac may be in danger.

But bleeding is not always internal: sometimes it occurs through a natural opening in the body such as the nose, mouth, or ears, or through a wound.

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

Prevent bleeding and provide a coagulation factor

The treatment of hemophilia aims to prevent bleeding and stop active bleeding, which can be achieved by providing the blood with the coagulation factor that the patient lacks, to normalize the coagulation process. The necessary quantity, type, and frequency of the factor are to be provided depending on the type of hemophilia suffered in each case (A or B) and its degree of severity.

The treatment can be used on demand -once the injury or bleeding has occurred- or in prophylaxis -it is administered several times a week to maintain acceptable levels of the deficient factor-.

In addition, in the early stages of the disease, treatment is administered in the hospital by healthcare professionals. Subsequently, there is the possibility of self-treatment, after specific training and careful training of the patient or of the parents in the case of a minor, for the administration of the coagulation factor in their own home -always following a hygiene protocol and some very specific steps-, according to the treatment established in each case. This helps patients to improve their autonomy and contributes to minimizing hospitalizations and pain, and even disability for long periods because it favors early treatment in the case of acute bleeding. This home therapy should only be used for light to moderate bleeding.

Ten tips for living with hemophilia

The daily life of most people with hemophilia can be quite normal, but they must follow a series of preventive measures:

1. You can learn to give yourself a clotting factor.

It will increase your autonomy and improve control of your illness, although it should always be done following the instructions of healthcare professionals and the corresponding self-treatment protocol. Carry out the periodic health checks that have been indicated and, of course, consult your doctor after bleeding episodes or in the event of any complication that you detect.

2. Treat bleeding early.

Make sure you always have a factor at home, and in case of light or moderate bleeding, apply it quickly. Especially if it is more serious bleeding, go to the hospital as soon as possible within the first two hours after its appearance.

3. Practice exercise, but avoid contact sports.

Regular physical exercise strengthens the muscles, which, in turn, protects the joints. Sports such as swimming, hiking, and cycling are especially suitable, while team sports carry some risks, and contact sports such as boxing or rugby should be completely avoided. It is better to follow organized sports programs rather than unstructured activities wear proper protective equipment and supervision may not be available. In any case, you should always protect the most vulnerable joints, such as the knee, elbow, or ankle.

4. Control your weight.

Physical activity will also help you maintain a healthy weight since excess kilos put an overload on the body and greater stress on the joints.

5. Take foods rich in iron.

To help you compensate for deficiencies that blood loss can cause. Red meat, legumes such as lentils, and shellfish such as mussels are sources of iron. Also take foods rich in protein, copper, vitamin C, E, B6, B12, and folic acid. Broccoli, spinach, and Brussels sprouts are rich in vitamin K, extremely important in the coagulation process.

6. Pay attention to medications.

Check with your doctor which ones you can take for mild pain and always avoid acetylsalicylic acid (aspirin) and non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and naproxen sodium, which have anticoagulant effects. Alternatively, you can take paracetamol.

7. Be very careful with your oral hygiene.

Given the increased risk of bleeding in the mouth, prevention of cavities and gum diseases (gingivitis and periodontitis) is essential. Brush your teeth at least twice a day and visit your dentist once a year for a checkup.

8. Take precautions when you travel.

Whether for leisure or work, when you travel, find out which are the hemophilia reference hospitals in your destination and take an easily accessible identification with you that specifies your diagnosis and the most relevant medical data for the management of your disease.

9. Remember that you are not alone.

In the difficult moments of your illness, talk about it, and seek support from your family, doctor or nurse, psychologist, or social worker. If your child has hemophilia, minimize the risks of trauma and injury, but without falling into overprotection, as they should lead as normal a life as possible.

10. Study your genetics and that of your family.

If you are planning to have a child, genetic studies will help you find out if there are carriers in the family or if you are carriers yourself. Prenatal diagnoses may also be helpful.

Share this with your family and those you love.