April 17 is World Hemophilia Day.
Healthcare organizations in the Brest region have established a hotline to motivate the population to maintain a healthy lifestyle, take care of their own health, and promptly identify and treat circulatory diseases.
- Brest Regional Clinical Hospital
8 (0162) 27-21-88, call from 9:00 AM to 3:00 PM. - Brest Regional Children’s Hospital
8 (0162) 28-99-09, call from 2:00 PM to 4:00 PM.
Every April, one of the World Health Days is dedicated to hemophilia. The theme of World Hemophilia Day 2026, announced by the World Federation of Hemophilia, is “Diagnosis – the first step to treatment.” This theme emphasizes the importance of early detection of bleeding disorders to initiate timely treatment and improve patients’ quality of life.
The main aspects of Health Day 2026 are:
- Timely diagnosis with an emphasis on the need for early detection of the disease;
- Ensuring access to modern treatment;
- Increasing public awareness of this problem to ensure early detection of hemophilia.
Hemophilia and its causes
Hemophilia is a hereditary disorder associated with a blood clotting disorder, where any cut or minor injury leads to bleeding that the body cannot stop on its own. Internal bleeding is the most dangerous, and can occur even with a slight bump on the elbow or knee.
The cause of this disease is a deficiency of blood clotting factors resulting from a change in one gene on the X chromosome, which is responsible for the production of specific proteins involved in the regulation of blood clotting.
Hereditary hemophilia affects exclusively males. The prevalence of this disorder worldwide is 1 case per 10,000 to 50,000 males.
Women pass on the altered X chromosome to their sons, but they themselves rarely suffer from the disease: hereditary deficiency of blood clotting factors in women is a very rare phenomenon.
The severity of the disease is influenced by the degree of deficiency of coagulation factors that cause loss of blood clotting ability.
Depending on the level of deficiency of these factors, mild, moderate and severe degrees of the disease are distinguished.
In mild hemophilia, the level of clotting factors is 5-25% of normal. Bleeding is rare and mild, occurring during trauma, surgery, or tooth extraction. It is usually diagnosed in school-age children.
In moderate cases, factor levels range from 1% to 5% of normal, hemorrhagic manifestations (bleeding into joint capsules and muscles) are moderate, and red blood cells are detected in urine analysis. Symptoms of hemophilia typically appear in preschool age.
In severe cases, the level of blood clotting factors is very low (below 1%), so severe hemorrhagic manifestations develop in early childhood: widespread hematomas (blood clots) on the head, increased umbilical cord bleeding in newborns, black stools (melena) due to bleeding gums during teething or teething, and possible hemorrhages into internal organs. In some cases, hematomas may occur without any connection to trauma.
Signs of hemophilia
Characteristic signs of hemophilia, which indicate a deficiency of blood clotting factors and which should alert parents, are:
- various bruises, hematomas (in muscles, under the skin, etc.), associated with minor injuries – occur in almost every fifth person with this diagnosis and are characterized by a wide area of distribution, can be accompanied by pain if an internal nerve trunk or vessel is compressed;
- bleeding from cuts, from the socket of an extracted tooth, gums, after surgical interventions, injuries that occur 6-8 hours after the traumatic circumstances, that is, are of a delayed nature;
- accumulation of blood in the joint cavity (in the knees, elbows, ankles, etc.) due to minor trauma;
- the appearance of blood in the urine (hematuria – from 14 to 20% of cases), occurs spontaneously or after a bruise to the lower back, may be accompanied by painful sensations similar to renal colic;
- intestinal bleeding – occurs in 8% of patients with severe hemophilia in the form of “black” loose stools, severe dizziness, weakness, and can be provoked by taking medications (steroids, analgesics);
- hemorrhage into the mesentery – causes an attack of acute abdominal pain, which has a similar clinical picture to acute surgical pathology (appendicitis, peritonitis, acute intestinal obstruction);
- Hemorrhagic strokes are observed in almost 5% of patients as a result of bleeding into brain tissue, more often in young people (symptoms depend on the location of the bleeding site).
These symptoms should prompt a visit to your pediatrician for additional blood tests to determine coagulation parameters (coagulogram). A visit to a hematologist is always recommended.
Diagnostic signs include: increased blood clotting time and decreased amount of blood clotting factors.
Treatment
Treatment for hemophilia involves taking medications that compensate for the inherited deficiency of clotting factors (replacement therapy), as it is impossible to completely cure the patient of this disease. The dosage depends on the type and severity of the disease.
There are two directions in the treatment of hemophilia:
- Prophylactic administration of blood coagulation factor concentrates to patients with severe hemophilia 1-3 times a week to prevent the development of bleeding, as well as additional administration of drugs before surgical interventions, including tooth extraction;
- Treatment during periods of exacerbation of the disease, when deficient blood clotting factors are administered in therapeutic doses.
Medicine is constantly advancing. Hematologists now have effective medications to prevent and reduce the frequency of bleeding associated with the inhibitor form of hemophilia A (hereditary factor VIII deficiency).
In the Brest region, a hematologist is treating four patients with this form of hemophilia, who receive these medications free of charge for a year. Thanks to these medications, they are able to attend school and kindergarten, significantly improving their social status and helping them integrate into modern life. Previously, the children were homeschooled.
The prognosis for patients with this disease is currently favorable. Prevention involves genetic counseling for couples with a strong family history of hemophilia.
