What is hemophilia?
Hemophilia is a rare inherited blood disorder characterized by increased bleeding, caused by a disorder of blood clotting.
Normal blood clotting prevents and stops bleeding into muscles and joints (hemarthroses and hematomas), as well as bleeding from cuts and scratches that can occur during anyone's active daily life.
Causes of Hemophilia
The disease is passed from parents to child, although in about one-third of cases it is caused by a spontaneous mutation. The genes that code for both blood clotting factors are located on the X chromosome. Women have two sex chromosomes, XX. Men have a chromosomal set of XY. When girls are born, one X chromosome is inherited from the mother, and the other from the father. A man with hemophilia has one abnormal X chromosome and one unaffected Y chromosome. In the case of boys being born, the Y chromosome is inherited from the father, and one of the X chromosomes from the mother.
Sons of a man with hemophilia and a healthy woman will be healthy with 100% certainty, and daughters will be carriers of hemophilia with 100% certainty. On average, carriers of hemophilia will have 30-50% of the normal level of clotting factor.
If a woman is a carrier of hemophilia and has one healthy X chromosome and one abnormal one, then from a healthy man, she can have sons who are either healthy (50%) or have hemophilia (50%) with equal probability, and daughters will also be either healthy (50%) or carriers (50%) of hemophilia with equal probability. This is why hemophilia mainly affects male patients who inherit the affected X chromosome from their mother.
Daughters can have hemophilia with a 25% probability if the father has it and the mother is a gene carrier. However, this happens extremely rarely.
Symptoms of Hemophilia
Severe hemophilia is characterized by the appearance of hemorrhagic syndrome in the first year of life (soft tissue hematomas, post-traumatic mucosal bleeding, hemarthrosis are observed). Large joints are mainly affected: knee, ankle, elbow, and hip. Joint bleeding usually begins some time after an injury. One of the manifestations of bleeding is acute pain. The affected joint increases in size, the skin over it becomes hot, and the general body temperature rises.
Moderate hemophilia has similar manifestations. The first signs usually manifest after one year of age. Patients with factor activity above 2% are less likely to develop joint bleeding, retroperitoneal hematomas, and hematuria. Post-traumatic hematomas and prolonged bleeding, especially with mucosal injuries, are most typical.
Mild hemophilia may not manifest at all throughout life.
Hemorrhagic syndrome usually occurs as a result of significant trauma or surgical treatment. Musculoskeletal system involvement is extremely rare.
General signs of hemophilia:
- prolonged bleeding after injuries;
- intra-articular bleeding causing swelling and pain;
- bleeding into the skin (hematomas) or muscles and soft tissues;
- gum bleeding that is difficult to stop after tooth extraction or loss;
- post-injection bleeding;
- blood in urine or stool;
- frequent and difficult-to-stop nosebleeds.
Diagnosis of Hemophilia
The diagnosis of hemophilia begins with identifying the presence of hemorrhagic syndrome in the patient's and family members' medical history. Collecting complaints and medical history, along with examination and laboratory diagnostics, allows for establishing an accurate diagnosis of the patient.
Living with Hemophilia…
Nutrition
There are no strict dietary rules that must be strictly followed for hemophilia. To restore blood and improve its clotting ability, it is necessary to consume foods rich in phosphorus, calcium, and vitamins A, B, C, and D. The most important thing is to ensure the body receives an adequate amount of vitamin K. It is known as the coagulation vitamin. Vitamin K can be obtained by consuming spinach, lettuce, onions, carrots, bananas, garlic, cucumbers, tomatoes, pears, apples, cabbage (especially broccoli, white cabbage, cauliflower), hot peppers, soybeans, egg yolk, cheese, butter, oats, turnip greens, and celery. To improve blood condition, increase hemoglobin, strengthen blood vessel walls, and lower cholesterol levels, it is necessary to include liver, fatty fish, citrus fruits, nuts, pomegranate, avocado, beets, cranberry juice, honey, buckwheat porridge, and carrot, apple, and beet juices in the diet. Beet juice should be diluted with carrot or apple juice. Initially, it should be diluted 1:1, then the dilution should be gradually reduced, and the concentration of beet juice increased. Additionally, you can drink purified water, green tea, tea with currants, viburnum, or raspberries, and rosehip broth.
Family
Parents need to understand the importance of involving a child with hemophilia in all family activities. In childhood, a reasonable choice of toys and types of activities can be an extremely important measure to prevent traumatic episodes. In school age, a child with hemophilia can participate in the normal educational process without any special exceptions. They should not be excluded from any of the activities of other children. It is very important that they do not feel inferior due to their illness, so that later they can lead an independent life. Throughout life, a person with hemophilia adapts to their illness. They know the limitations it imposes, take them into account, and plan their activities accordingly. Most often, people with hemophilia have above-average intelligence. A person with hemophilia has no choice but to learn to live with this illness and get used to the fact that their body requires special precautions and particularly careful handling every day.
Children with hemophilia must always carry a special passport indicating the type of disease, blood group, and Rh factor. They require a protective regimen, injury prevention; dispensary observation by a pediatrician, hematologist, pediatric dentist, pediatric orthopedist, and other specialists; and monitoring in specialized medical facilities.
Sports
Recommended safe sports include: golf, sailing, swimming, walking, badminton, archery, cycling