Hemophilia: symptoms, treatment, prevention

Hemophilia in a newborn occurs, in particular, due to poor heredity. If one of the parents or close relatives is diagnosed with this disease, the baby automatically falls into the risk group. It is likely that healthy children will develop hemophilia. What should parents do in such cases? Does a sick child need special care? You will find answers to these questions in our article.

Classification of the disease

The blood clotting mechanism involves 12 proteins, which are designated by Latin numbers - from I to XII. If at least one of them is missing, or its indicators do not correspond to the norm, this causes pathology.

Hereditary diseases are divided into 3 types:

• A – this is how hemophilia is classified due to deficiency of factor VIII (antihemophilic globulin);
• B – otherwise – Christmas disease – with a lack of factor IX;
• C is the rarest form of the disease, characterized by a deficiency of factor XI.

The symptoms of the latter type of disease and the mode of inheritance are different from the first two, so it is classified in a different classification.

There are three degrees of severity of the disease, they depend on how affected the blood clotting system is:

1. Mild - in this case, bleeding only accompanies injuries or surgical interventions; diseases in this form range from 5 to 15% of cases.
2. Moderate – already in early childhood, the slightest trauma causes extensive hematomas, severe bleeding – 1-5% of all cases of hemophilia in children.
3. Severe - characterized by severe bleeding from the very birth of the child - up to 1%.

In half of the cases, the pathology does not manifest itself openly, in 15-50% it occurs in a hidden (latent) form.

Hemophilia: symptoms, treatment, prevention

Authors : Health line

What is hemophilia?

Hemophilia is an inherited disorder of the blood system in which a person has very low levels of certain proteins called “clotting factors,” causing the blood to not clot properly but to continue to leak when damaged.

There are 13 types of blood coagulation factors that determine the process of platelet formation of a blood clot. Platelets are small blood cells that are produced in the bone marrow.

According to the World Federation of Hemophilia (WFH), one in 10,000 earthlings is born with this disease.

People with hemophilia bleed easily and it takes their body much longer to form a blood clot that will block the blood vessel. Moreover, bleeding can be either external, resulting from injury, or internal, including spontaneous, without the influence of external factors. Patients with hemophilia often experience painful, swollen joints due to bleeding in them. This rare but serious condition can have life-threatening complications.

Three forms of hemophilia: A, B and C

Hemophilia A is the most common type of hemophilia and is caused by a deficiency of factor VIII. Eight out of 10 people with hemophilia have hemophilia A, according to the National Heart, Lung, and Blood Institute (NHLBI).

Hemophilia B, also called Christmas disease, is caused by a deficiency of factor IX.

Hemophilia C is a mild form of the disease caused by factor XI deficiency. People with this rare type of hemophilia usually do not suffer from spontaneous bleeding; they usually experience hemorrhage after injury or surgery.

In the vast majority of cases, hemophilia is an inherited genetic condition that cannot be cured, but symptoms can be minimized and future health complications can be prevented.

In extremely rare cases, hemophilia can develop after birth. This is called "acquired hemophilia" - the immune system of such people produces antibodies that attack factors VIII or IX.

What are the symptoms of hemophilia?

The severity of symptoms depends on the degree of clotting factor deficiency. People with moderate deficiency may suffer from persistent bleeding if injured. People with severe deficiency may suffer from bleeding for no reason, "spontaneous bleeding." In children with hemophilia, these symptoms usually first appear around 2 years of age.

The following symptoms indicate spontaneous bleeding:

• blood in urine;
• blood in stool;
• subcutaneous painful bruises;
• large unexplained bruises;
• excessive bleeding from an open wound, tooth loss or eruption;
• bleeding gums;
• frequent nosebleeds;
• joint pain;
• joint stiffness;
• tearfulness and irritability (in infants).

When to visit a doctor

If you experience the following symptoms (or at least one of them), you should immediately seek emergency medical help:

• Strong headache;
• repeated vomiting;
• pain in the neck;
• blurriness or double vision;
• unexplained drowsiness;
• continuous bleeding due to injury.

It is especially important for a woman who is pregnant to be under the supervision of a doctor, and if any of the above occurs, a visit to the doctor is absolutely necessary for her.

What causes hemophilia?

A process in the human body known as the "coagulation cascade" usually stops bleeding. Blood platelets coagulate (or gather together) at the wound site to form a clot. The clotting factors then work together to create a secure plug in the wound. Low levels of clotting factors or their absence leads to continued bleeding.

Hemophilia and genetics

Hemophilia is an inherited genetic condition, meaning it is passed from parents to children. Hemophilia is caused by a defect in a gene that determines how the body makes factors VIII, IX or XI. This gene is located on the X chromosome, making hemophilia an X-linked recessive disease.

Each person inherits two sex chromosomes from their parents. Women have two X chromosomes. Males have one X and one Y chromosome—they inherit the X chromosome from their mother and the Y chromosome from their father. Women receive an X chromosome from each parent. Because the genetic defect that causes hemophilia is located on the X chromosome, fathers cannot pass the disease on to their sons. This also means that if a man receives an X chromosome with an altered gene from his mother, he will have hemophilia. A woman with one X chromosome who has the altered gene has a 50% chance of passing the gene on to her children, either girls or boys.

A woman who has the altered gene on one of her X chromosomes is usually called a "carrier." This means she can pass the disease on to her children, but she does not have the disease herself because she has enough clotting factors from her normal X chromosome to avoid serious bleeding problems. However, female carriers still have an increased risk of bleeding.

Men with an X chromosome that has an altered gene can pass it on to their daughters, thereby making them carriers of hemophilia.

Thus, a woman must have the altered gene on both of her X chromosomes to have hemophilia. However, as you might guess, this happens extremely rarely.

Risk factors for inheriting hemophilia

Hemophilia A and B are more common in men than women due to the mechanism of its genetic transmission (see figure).

Hemophilia C is an autosomal inherited form of the disease, meaning it affects both men and women equally. This is because the genetic defect that causes this type of hemophilia is not related to the sex chromosomes. In the United States, hemophilia C affects approximately 1 in 100,000 people.

How is hemophilia diagnosed?

Hemophilia is diagnosed using a blood test. The doctor takes a blood sample from a vein and determines the amount of clotting factor present in it. If the answer is positive, the sample is assessed to determine the degree of factor deficiency:

• mild form of hemophilia - the content of coagulation factor in plasma ranges from 5 to 40%;
• moderate hemophilia - from 1 to 5%;
• severe hemophilia - less than 1%.

Complications associated with hemophilia

Complications of hemophilia include:

• joint damage from repeated bleeding;
• deep internal bleeding;
• neurological symptoms from bleeding in the brain.

People with hemophilia are also at increased risk of developing infections such as hepatitis when they receive donated blood.

How is hemophilia treated?

Your doctor can treat hemophilia A by prescribing prescription hormonal medications, such as desmopressin, which is most often given intravenously. This medicine stimulates the production of factors responsible for the blood clotting process.

Hemophilia B is also treated by infusing blood with clotting factors from a donor. Sometimes clotting factors can be synthetic - these are so-called “recombinant clotting factors”.

Treatment of hemophilia C is possible using plasma infusion, the infusion of which helps stop bleeding. Factor deficiency responsible for hemophilia C is only available as a medicine in Europe.

It is also possible to prescribe physical therapy for rehabilitation if the patient's joints are damaged as a result of hemophilia.

Prevention of hemophilia

Hemophilia is transmitted from mother to child. During pregnancy, there is no way to know whether hemophilia is passed on to the baby. However, with in vitro fertilization in a clinic, it is possible to check whether the embryo has hemophilia or not. Naturally, only those who are not affected by hemophilia are implanted. Conscious preparation for pregnancy and preliminary tests, as well as prenatal counseling, will help determine whether there is a risk of having a child with hemophilia.

published 04/17/2018 16:31 updated 04/17/2018 — Congenital and hereditary diseases

Symptoms of the disease

Already from the first days of a child’s life, a hereditary disease can make itself felt. Manifestations of hemophilia in newborns:

• generic cephalohematoma, in which blood accumulates under the periosteum of the parietal, frontal, occipital or temporal bones.
• bleeding from the umbilical cord;
• hematomas – subcutaneous, intradermal. Hematomas are often observed on the buttocks when a woman gives birth on her own;
• hemorrhagic exanthema is a rash that appears for no reason or due to mechanical impact.

The rash can be caused by even the slightest pressure - from rubber bands from clothes or underwear. The rash sometimes goes away on its own, but sometimes merges, turning into extensive hematomas.

After a year, the symptoms become more pronounced: the child begins to walk, actively explore the world around him, and injuries are inevitable. At this time, the symptoms of hemophilia manifest themselves as follows:

1. Extensive hematomas with the slightest fall or pressure on soft tissue. They are painful, which causes frequent whims of the child, deterioration of the baby’s mood and character.
2. The bleeding is prolonged, it does not correspond to the injury received - after taking blood for analysis, injections, cuts, it is very difficult to stop the bleeding.
3. Teething, and even more so, their removal, is painful and characterized by severe bleeding.
4. Frequent bleeding from the nose - sometimes for no apparent reason. Conventional methods of stopping bleeding do not help.

Sometimes hemophilia in a child manifests itself with signs that, at first glance, are not related to the disease:

• disruption of the digestive system;
• the presence of blood in the child’s stool and urine;
• increased body temperature of unknown etiology.

How doctors determine hemophilia in newborns. How does treatment depend on this?

The disease can be diagnosed not only by external symptoms, which begin to appear from the neonatal period. Hemophilia can be detected by laboratory tests, for example, by testing the blood of an infant.

For parents! To accurately determine the development of hereditary hemophilia in an infant, a DNA test is performed for genetic predisposition.

Blood tests are also prescribed as part of the main diagnosis of hemophilia in newborns.

It is impossible to eliminate the cause of hemophilia in an infant using medications, so only symptomatic treatment is undertaken. It is necessary to exclude treatment with certain medications: Aspirin, Ibuprofen, and drugs with similar effects. Since they impair the process of proper blood clotting and, possibly, attacks of dangerous bleeding and the formation of hematomas.

It is impossible to completely cure hemophilia in newborns due to heredity; therefore, all therapy will be aimed at replacing the blood enzymes responsible for coagulation. To relieve the symptoms of hemophilia type A, a donor blood transfusion is prescribed and recombinant clotting factor VIII is administered. This drug is administered intravenously twice a day.

When treating hemophilia type B in infants, concentrated factor IX is used, as well as thrombosed type drugs. Donor blood or plasma of any shelf life must be administered.

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Parents should remember that open and closed bleeding for a baby with hemophilia is life-threatening. This is why it is important to immediately provide assistance to your child if he or she is injured. If the baby suffers from a moderate form of the disease, symptomatic treatment is indicated.

Hemarthrosis in children

Hemarthrosis is a hemorrhage that affects large joints - hip, shoulder, knee. It causes pain, is accompanied by swelling, and joint mobility is limited. This manifestation often occurs in children with hemophilia between the ages of one and eight years. There are two types of hemarthrosis:

• acute – emerging for the first time, actively manifesting itself;
• recurrent, in which relapse occurs periodically, with hemorrhage occurring in the same joint.

It can appear when running, during jumping, or during other physical activities - in this case, the hemorrhage occurs symmetrically, in both knee joints. When putting stress on the arms - pull-ups, rope climbing, hanging on a bar, push-ups - the joints of the shoulder and elbows are affected.

Important! Characteristic symptoms of hemarthrosis are swelling, an increase in volume, and pain. If hemarthrosis is not treated, it threatens to result in the suppuration of the contents of the joint capsule and the appearance of scars. As a result, everything can lead not only to limited mobility of the joint - to the formation of ankylosis: the joint will stop moving completely.

Having appeared for the first time, the painful sensations may go away; with repeated hemorrhages, the consequences can be not only painful sensations, but also deformation of the joints.

Sometimes bleeding does not begin immediately after injury, it can appear after a few hours, and if hemophilia previously occurred in a latent form, bleeding that began 6-12 hours after injury can cause bewilderment and greatly frighten the child’s parents. It is simple to explain such symptoms - platelets in the blood stop the bleeding that begins at the time of injury.

Hemophilia in children - symptoms and classification

In a healthy person, 12 factors take part , which are based on 12 proteins, designated from I to XII. The absence or insufficient level of some of them in the blood contributes to the deterioration of coagulation.

Classification

Hemophilia is divided into three types:

• hemophilia A (classical - lack of antihemophilic globulin);
• hemophilia B (Christmas disease – plasma thromboplastin deficiency);
• hemophilia C (a very rare type - a deficiency of the blood plasma thromboplastin precursor component).

All types of this disease have identical manifestations. The difference lies in the lack of one of the proteins, which affects blood clotting. The main thing is to determine this type of protein in order to choose the right treatment regimen.

Hemophilia is divided into the following forms:

• mild - bleeding occurs only as a result of injuries or as a result of surgical operations;
• medium - huge hematomas and bleeding due to injuries, manifests itself at an early age, when the child begins to walk;
• severe - the disease is determined immediately after birth;
• latent (hidden).

In children from birth to one year

• extremely prolonged bleeding from the umbilical cord;
• formation of subcutaneous hematomas and cephalohematomas;
• surgical interventions (trimming the frenulum of the tongue or lips, circumcision of the foreskin);
• teething;
• bleeding when biting the tongue, lips, cheeks.

Did you know? In breastfed children, hemophilia rarely manifests itself due to the fact that mother's milk contains a sufficient amount of active thrombokinase.

In children older than one year, these symptoms gradually appear

• bleeding from the nose, gums;
• intermuscular and subcutaneous hematomas that do not resolve well;
• problems with the gastrointestinal tract;
• hyperthermia for no apparent reason;
• blood in stool and urine;
• delayed nature of bleeding (does not occur when the injury occurs, but after some time, in some cases after 6-12 or more hours from the moment of injury);
• hemarthrosis of large joints: elbow, knee, hip, shoulder.

According to the frequency of hemorrhages in hemophilia, there are:

• hemarthrosis (bleeding in the joints, 70-80%);
• hematomas (subcutaneous hemorrhages, 10-20%);
• hematuria (blood in urine, 14-20%);
• Gastrointestinal tract (8%);
• cerebral hemorrhages (5%), which cause severe central nervous system damage or death.

One of the main signs is hemarthrosis. The process is quite painful and is accompanied by hyperthermia. With repeated hemorrhages, blood clots appear in the joints. Over time, the clots become overgrown with connective tissue, causing the joint to lose mobility.

Bleeding can also be caused by any medical procedure (intramuscular injection, tooth extraction, etc.). Due to prolonged and constant bleeding, the child develops anemia of any severity.

Important! Bleeding from the nasopharynx and pharynx is life-threatening for a child with hemophilia, as it can cause airway obstruction and require emergency tracheotomy.

Internal bleeding

Gastrointestinal bleeding is dangerous due to its manifestations and consequences. A baby who has burped after feeding may have visible traces of blood, indicating a deficiency of blood clotting factors. This is typical for a lack of factors VIII and IX. The delicate lining of the stomach and esophagus can be injured by solid food (cookies, crust of bread), small objects swallowed by the baby, especially if they have sharp edges.

The following symptoms will help determine where the bleeding is occurring:

1. Fresh scarlet blood when regurgitated or in vomit means damage to the esophagus.
2. The color and consistency of “coffee grounds” indicate that bleeding occurs in the stomach: hydrochloric acid hematin, formed as a result of the interaction of blood with hydrochloric acid, may have this appearance. Bleeding is accompanied by black liquid stool.
3. If there is bright, fresh blood in the stool, the child is likely to have intestinal bleeding.

Such symptoms cannot be ignored; they require immediate medical intervention.

Diagnosis of the disease

Diagnosis of any disease begins with general tests. A blood test will show the level of hemoglobin and the functionality of platelets - blood clotting cells.

A general urine test is the second test that will indicate the presence or absence of blood in the child’s urine.

The following tests are required if hemophilia is suspected:

1. Biochemical.
2. Hemostasiogram.
3. Blood plasma for the content of factors VIII and IX. Until six months, the baby has its own characteristics of the level of factor IX - physiological. It can be reduced, so a control study is mandatory every six months and a year. After receiving the control numbers, the diagnosis can be clarified.
4. X-ray of joints.
5. Ultrasound of internal organs, kidneys.

Modern technologies make it possible to conduct research at the molecular genetic level. This diagnosis will help determine the presence of a pathological gene. This study is carried out by studying venous or arterial blood. It is recommended for couples with a history of hemophilia in their family.

Prenatal diagnosis will help to establish the presence of pathogenic X chromosomes in the prenatal period. At 11-12 weeks, material is collected and the chorionic villi are examined. This diagnosis makes it possible to determine the presence of pathology with almost 100% accuracy. Such research is expensive and is carried out only in specialized medical genetic centers.

Treatment of hemophilia

Blood diseases - profile of a hematologist. In addition, taking into account the accompanying symptoms, you will need the help of other specialists - a surgeon (in the presence of internal bleeding), a traumatologist and an orthopedist (in case of hemarthrosis). If gum bleeding is observed, you will have to contact an oral and maxillofacial surgeon.

Treatment of hemophilia in children is complex, especially considering that we are talking about a child, because no child wants to be considered inferior. Therefore, first of all, you should create the right atmosphere in the house. It is very important that parents know how to quickly help their child, because the slightest careless movement of the child, a fall, or a bruise will cause him injury.

Multiple restrictions will cause psychological trauma to the child, so it is important to occupy his time with intellectual games, creativity, and introduce him to interesting books. There is no need to limit a child’s communication with peers, only their games should be special. If you correctly explain to children why injuries are dangerous for their friend, they themselves will protect him. It is impossible to build a wall between a child with hemophilia and the rest of society.

Advice! In nutrition, it is important to follow a diet: fresh vegetables and fruits will provide the body with the necessary vitamins, protein - lean meat, dairy products.

Therapy consists of the administration of special drugs. Hemophilia A in children involves the use of:

• antihemophilic plasma;
• antihemophilic globulin.

They cannot remain in the blood for a long time, so every month a child with hemophilia A needs a fresh blood transfusion from a donor relative.

Desmopressin will help activate the production of factor VIII. It is used for children starting from 4 years of age. The drug can be administered subcutaneously, intravenously, or using a nasal spray.

To treat hemophilia B, drugs made from concentrated blood are used - factors IX and X are not destroyed during storage. PPSB is often used - a combination drug that includes:

• IX and X factors;
• prothrombin;
• proconvertin.

Pediatrics has developed treatment regimens. They are compiled by the attending physician. Drugs can be administered to a sick child when bleeding occurs or according to an established schedule - 2-3 times a week. Unfortunately, the child has no other option but to undergo treatment throughout his life. However, such maintenance therapy is the most effective. But if necessary, the patient can undergo operations, treatment and tooth extraction - those manipulations that are associated with blood loss. With the help of preventive procedures, large blood loss can be avoided.