What is Hemophilia? Symptoms, treatment, diagnosis and more

What is hemophilia?

Hemophilia is an incurable hereditary disease characterized by spontaneous bleeding (internal and external), delayed blood clotting time, bruising, pain and swelling in the joints. It is caused by insufficient clotting factors in the blood and, when left untreated, can lead to death from bleeding.

When there is a rupture in a blood vessel, the blood starts to flow out. This can occur both inside the body, characterizing internal bleeding, as well as outside, such as when someone is cut. At the site of rupture, proteins called coagulating factors work together with blood platelets to form a kind of plug and stop bleeding. This buffer is called a blood clot.

The hemophilic person has problems in the production of coagulating factors and, therefore, the process is hampered and slows down. Thus, when suffering an injury, the hemophiliac may bleed for longer than a person with normal clotting. In addition, the disease is also associated with frequent spontaneous bleeding in the muscles and organs, causing internal bleeding that is difficult to stop.

Depending on the severity, the disorder is identified as early as the child’s first years of life, through spots on the skin (bruises) as soon as he starts to crawl or walk. In other cases, adolescents and adults may discover that they suffer from hemophilia after surgery, dental extractions or serious accidents, as they have a moderate or mild degree of the disease that does not manifest with internal bleeding.

One of the most famous cases of hemophilia in history is that of Queen Victoria, from the United Kingdom, who was a carrier and passed the gene on to her descendants. It is believed that the queen’s condition was caused by a spontaneous genetic mutation, which resulted in the appearance of hemophilia in the English royal family and, subsequently, in several royalty.

Because it is directly linked to the sex chromosome X, hemophilia is more frequent in men, but it can also occur in women if it has changes in both sex chromosomes.

Is there a relationship between hemophilia and color blindness?

Many people wonder if there is a relationship between hemophilia, a disease of blood clotting, and color blindness , a disease that alters color perception. This is because both are directly linked to the X chromosome and are manifested, in most cases, in men.

However, the similarity stops there. There are no studies that prove any other type of relationship between these two conditions.

Types of hemophilia

Hemophilia can be classified according to the missing clotting factor or, further, according to its severity. Learn more about the types of hemophilia below:

Hemophilia A

It is the most common form of hemophilia, caused by changes in the F8 gene, which alters the production of factor VIII. It affects about 1 in 5,000 male births.

Hemophilia B

Caused by changes in the F9 gene, this type of hemophilia affects factor IX and occurs in about 1 in 34,000 male births.

Hemophilia C.

Extremely rare, hemophilia C has milder symptoms and affects factor XI and has an equal incidence in men and women, as the change is not in the sex chromosomes. It is more common in people descended from Ashkenazi Jews, but it is also found in other ethnicities.

Acquired hemophilia

In some people, the immune system can become confused and attack the human body’s own healthy cells, causing so-called autoimmune diseases . When the body creates antibodies against coagulating factors, an acquired hemophilia develops, which can affect people of all genders, ages and ethnicities. It is worth mentioning that this is the rarest type of the disease.

Gravity

Since genetic changes do not always stop protein production completely, the severity of the disease depends on the amount of the clotting factor in the blood. Understand better:

  • Mild: When there is between 5% and 40% of the clotting factor in the blood;
  • Moderate: When there is less than 5% and more than 1% of the clotting factor;
  • Severe: When the amount of the clotting factor is less than 1%.

Causes of hemophilia

Although hemophilia is a typically genetic disease, it can also be caused by other factors. Even more rarely, the condition can develop due to autoimmune factors, which are not genetically transmissible, or by spontaneous mutation, which can be passed on to children.

Better understand the causes:

Genetics

Hemophilia types A and B are linked to a gene present on sex X chromosome. Therefore, the disease is more common in men, who have only 1 X chromosome, while women have 2 and, when one of them has a defect , the other can compensate.

The information on how to produce the clotting factor is encoded on the sex chromosome X. When there is a change in the gene responsible for the protein, the body can start producing a defective protein or even cancel its production. This deformity in the protein causes complications in the clotting process, since each factor is essential for the clot to be carried out.

In general, women who have a defective gene have no symptoms of the disease and are called “carriers”. When this woman has a child, there is a 50% chance that the child will be hemophiliac. If you have a daughter, the chance that she is also a carrier is 50%.

The father can never pass the disease on to his male children, since the X chromosome of male children always comes from the mother. However, when having a daughter with a non-carrier partner, this father passes the altered gene to the girl, making her a carrier.

If the girl’s father is hemophilic and the mother is a carrier, there is the possibility that the girl will inherit two altered chromosomes, thus becoming not only a carrier, but also hemophilic.

In the case of hemophilia C, the change is in chromosome 4, an autosome that is not related to the person’s sex. Therefore, it can occur in both men and women.

Autoimmune

It happens when the immune system starts to attack the healthy organism itself. This can lead to several autoimmune diseases, including acquired hemophilia.

Spontaneous mutation

About 1/3 of the hemophilic population has no family history of the disease. Thus, it is believed that the disorder is caused by a spontaneous mutation in the chromosome, which can be passed on to the next generations.

Hemophilia symptoms

The symptoms of hemophilia vary from person to person and according to the degree of severity (mild, moderate or severe) of the disease. In case of mild or moderate hemophilia, for example, the bleeding may not stop after surgery or trauma, without further complications. People who suffer from severe hemophilia may experience spontaneous bleeding.

Some common symptoms are:

  • Excessive bleeding from cuts and bruises, especially after surgery or dental procedures;
  • Large purple patches on the skin, called bruises;
  • Accumulation of blood in the subcutaneous (fat layer) or muscle tissue, called hematoma;
  • Unusual bleeding after vaccines;
  • Pain, swelling, increased temperature and locking of the joints (joints), which characterizes spontaneous internal bleeding;
  • Blood in the urine or faeces;
  • Nasal bleeding for no apparent reason.

Attention!

Parents or guardians should be aware that children may experience unexplained irritation and refuse to move because of pain.

Bruises located on the tongue, neck, forearm, calves and iliopsoas muscle (located in the hip) can lead to serious problems and are therefore considered to be high-risk bruises. Contact your doctor if hematoma is suspected in these areas.

It should be remembered that hemophiliacs do not bleed more intensely than people with normal clotting, they only bleed for longer at the expense of the lack of the clotting factor.

Emergency situations

Some hemorrhages resulting from the condition can be fatal and, therefore, it is necessary for the patient to be aware of the following signs, which characterize emergency situations:

  • Spontaneous pain, swelling and increased temperature in large joints, such as knees, elbows, hips and shoulders, or even in the muscles of the arms and legs;
  • Bleeding from an injury, especially in the event of severe hemophilia;
  • Prolonged and severe headache;
  • Recurrent vomiting, with the possibility of vomiting blood;
  • Extreme fatigue;
  • Neck ache;
  • Duplicate view;
  • Presence of blood in the sputum (cough secretions);
  • Black stools, which indicate the passage of blood through the intestine.

How is hemophilia diagnosed?

In order to have an accurate diagnosis, it is necessary to report the suspected hemophilia to the general practitioner, telling the history of bleeding and other symptoms of the disease. He can then order a blood test, in which a nurse collects some of the blood and sends it to a laboratory for analysis. In the laboratory, a general practitioner or hematologist counts the coagulating factors in the blood and checks whether there is a deficiency or not.

If the disease is discovered after a surgical or orthodontic procedure, the procedure will be the same, and the doctor may ask questions about other symptoms of the disease.

Is hemophilia curable? What is the treatment?

Unfortunately, there is no cure for hemophilia today. However, there are treatments that can help prevent and control bleeding when it occurs. Know more:

Plasma replacement of the coagulant factor

The most common treatment is to replace the plasma containing the coagulating factors intravenously. This is usually done with donated blood or a concentrate that does not use human blood, called “recombinant clotting factors”.

This replacement helps prevent spontaneous bleeding and stop open wounds. People with severe hemophilia may need this resource frequently, as a preventive measure, while people with milder forms may need it only after accidents, surgeries, among others.

The patient can receive this treatment at the hospital or at home, as there is a possibility that the doctor will teach you how to prepare and inject the solution yourself.

For type C hemophiliacs, treatment of this type is only available in Europe.

Desmopressina

For mild or moderate type A hemophiliacs, desmopressin injection or spray may be a treatment option. Desmopressin is a synthetic hormone that simulates vasopressin, naturally present in the body. The role of this hormone in coagulation is important, as it contributes to the release of factor VIII, which, consequently, increases its availability in the blood.

It can be administered through injections or nasal spray. However, it should not be used often, only in really necessary situations. Therefore, it is not recommended as a preventive measure for severe hemophiliacs.

Antifibrinolytic drugs

Antifibrinolytic drugs help prevent clots from breaking down. The lack of some proteins in these clots can make them more fragile and prone to rupture and, therefore, this type of medication can be prescribed.

In such cases, aminocaproic acid and tranexamic acid are prescribed .

Fibrin glues

Fibrin glues or sealants are a type of organic glue that aid in the coagulation and healing of certain cuts and lesions. Widely used in surgery, these glues can be applied to the wound site. It can be useful in surgical and dental procedures.

There are glues of animal origin and glues made from human plasma. Some organisms may reject animal glues and, in these cases, the use of human glues is more suitable.

First aid

When the hemophiliac suffers an injury, a first aid kit is essential. Using gauze to put pressure on the wound helps the bleeding to stop. When the lesion is subcutaneous, such as a hematoma, an ice pack can help, in addition to leaving the site numb and relieving pain.

Never put ice directly on your skin, as low temperatures can cause burns.

Physiotherapy and physical exercises

Bleeding and bleeding can cause muscle and joint damage. Therefore, physiotherapy is necessary to take full advantage of movements and undamaged tissues.

Physical exercise can also help, in addition to contributing to a better quality of life. In general, the exercises recommended for hemophiliacs are those with the least chance of hurting muscles or joints, such as walking, swimming, among others.

Surgeries

When internal bleeding causes damage to the muscles and joints, surgical intervention may be necessary for reconstruction, rewiring of tendons, among others.

Vaccines

As blood transfusion for plasma replacement can cause disease transmission, it is extremely important that the patient is vaccinated against the various existing viruses. Although the donated blood is filtered, treated and obeys certain criteria, there is still the possibility, even if tiny, of disease transmission.

It is recommended that at least the patient to be vaccinated against Hepatitis A and Hepatitis B .

Gene therapy

Researchers are looking for a way to correct the altered genes that cause hemophilia. However, the research is not yet developed enough for this type of therapy to be released to the public. Still, the search continues and it may be that in the future there will be a cure through genes.

Necessary care

Because it is a somewhat limiting disease, hemophiliacs should take some precautions on a daily basis. Check out some of them:

  • In case of joint hemorrhage, the patient must immobilize the joint to prevent permanent damage;
  • The patient must be very attentive and cautious when cutting his hair, doing his nails, trimming his beard, waxing or any other procedure that uses sharp objects or sources of heat;
  • Have your appointments with the haematologist up to date and, in case of surgeries, advise you to order the medication that temporarily improves clotting;
  • Always notify the doctor of your bleeding episodes;
  • Take care not to hurt your gums and other sensitive parts of your mouth when brushing your teeth;
  • Always carry a card that identifies you as hemophiliac, containing information such as blood type, Rh factor and the contact of a trusted person in case of emergencies.

Living with hemophilia

In general, hemophiliacs undergoing treatment have a high chance of leading a normal life. However, some care must be taken. Below are some tips for living with the disease:

Contraindicated remedies

Medicines containing acetylsalicylic acid and ibuprofen make the blood thinner, which makes clotting difficult. In such cases, the drugs usually recommended are those containing paracetamol .

There are also drugs that prevent clotting. Its use is harmful to hemophiliacs and should be avoided. Some of them are:

  • Heparin ;
  • Warfarin ;
  • Clopidogrel;
  • Prasugrel.

Attention!

NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained on this site is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.

Dental hygiene

Maintaining good dental hygiene helps to avoid surgical dental procedures such as, for example, tooth extraction and, for this reason, is extremely important for hemophiliacs. Consultations with the dentist should also be up to date, as the professional will be able to identify and end a problem before drastic measures are necessary, as in the case of cavities.

Protection when practicing physical activities

If the patient wants to ride a bicycle or practice other physical activities, it is necessary to use protection such as knee pads, elbow pads and helmet. When riding in a car, seat belts are of utmost importance.

Protection for children

If there is a hemophilic child, the ideal is to always look for soft toys and accessories, to reduce the possibility of accidents. You can talk to an occupational therapist to help adapt the home and other living environments for the child.

It is not recommended that, because of his condition, the child should be prohibited from living normally or from going out and playing with others. Socialization during childhood is of the utmost importance and should not be avoided.

Clothes

Some clothes can present dangers for the hemophiliac, due to metallic details or zippers. It is recommended that the patient prefers clothes with buttons over zippers, as well as shoes with laces instead of buckles. Pants, skirts and very long dresses should be avoided, as the chance of tripping over their own clothes, falling and getting hurt, increases.

Support groups

Being hemophilic can be quite limiting for some people, so they need to know that they are not alone. The support groups offer information, therapy and contact with people going through the same situation, which can help the patient, since sharing experiences and problems can bring him closer to his abilities and limits.

Piercings and tattoos

Body modifications such as piercings and tattoos are not prevented for hemophiliac patients, as long as the doctor responsible for their treatment is aware. He can and should recommend taking a dose of the clotting factor before the cosmetic procedure.

It is up to the patient to look for a professional tattoo artist who works in an establishment registered by ANVISA, as they usually follow safety recommendations, such as the use of sterile and disposable materials.

Complications

Like all illnesses, hemophilia can lead to complications that can, in some cases, be serious. Some of them are:

  • Internal bleeding and death: When not detected, internal bleeding can continue and lead the patient to death;
  • Joint damage and deformation: Spontaneous bleeding in the muscles and joints, when left untreated, can cause permanent joint damage, as well as deformities that can cause loss of joint function;
  • Brain injury: Spontaneous bleeds can also occur in the Central Nervous System and, when left untreated, cause permanent brain damage. These injuries can lead to loss of brain function, causing cognitive, memory, judgment problems, among others;
  • Difficulty breathing: There is a possibility of bleeding in the throat, which can cause breathing difficulties. Sometimes, it is necessary to use non-invasive ventilatory devices, until the bleeding stops and the patient can breathe normally;
  • Blood in the urine: Due to possible bleeding from the kidneys, there may be blood in the urine. When this happens, it is necessary to contact the doctor responsible for monitoring the disease;
  • Infections: Blood transfusion can facilitate infection with diseases such as HIV and Hepatitis ;
  • Immune response to blood transfusion: When the immune system does not accept the treatment of blood transfusion, it produces antibodies that fight the injected coagulating factors. This complication can be even worse, since the antibodies can start to fight the patient’s own coagulating factors, causing an acquired hemophilia.

How to prevent hemophilia

Hemophilia is a condition passed from mother to child and, therefore, prevention is done during pre-conception.

When the woman knows she is a carrier, she can opt for in vitro fertilization, which ensures that the egg used carries the healthy X chromosome. In addition, it is also possible to separate the sperm that carry another X, to have a carrier girl, instead of a hemophiliac boy.


Despite being a rare disease, hemophilia is one of the most well-known coagulation disorders, but few understand how it occurs or why it happens.

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