What is Hemophilia?
Hemophilia is a rare condition in which the blood doesn't clot normally because it lacks enough blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed more profusely and for a longer period of time than you would if your blood clots normally.
Small wounds typically don't cause too much trouble. The biggest concern is when you have a severe case of the illness causing internal bleeding. Internal bleeding poses a life-threatening risk and can harm your tissues and organs.
Typically, hemophilia is a hereditary condition. The specific clotting factor that has been lowered is regularly replaced as part of the treatment. There are other more recent treatments that don't use clotting factors.
Symptoms
Depending on your amount of clotting factors, hemophilia can cause a variety of signs and symptoms. If you only bleed after a surgery or trauma, your clotting-factor level may be mildly lowered. If you have a significant deficiency, you may bleed easily without any significant cause.
Spontaneous bleeding symptoms includ
- Profuse bleeding from cuts or bruises, especially following surgery or dental work, without apparent cause
- Several significant or severe bruising
- Uncommon bleeding with immunizations
- Joint discomfort, edema, or stiffness
- Blood in your feces or urine
- Nosebleeds
- Irritation in young children
Blood loss in the brain-Some people with severe hemophilia can experience bleeding into the brain after a minor head injury. Although it doesn't happen often, this is one of the most significant issues that could arise. Some warning signs and symptoms are:
When to visit a doctor?
Visit a doctor if you experience:
- Indications or symptoms of brain hemorrhage
- An injury where the bleeding is uncontrollable
- Swollen joints that hurt to bend and are hot to the touch
Get the best treatment for hemophilia from the best Hematologist at Medicover Hospitals.
Causes
Hemophilia is caused by a mutation, in one of the genes, that provides instructions for manufacturing the clotting factor proteins needed to create a blood clot.
The body normally gathers blood cells to form a clot to halt bleeding when a person bleeds. Blood proteins called clotting factors work with platelet-like cells to produce clots. When a clotting factor is absent or present in insufficient amounts, Hemophilia occurs.
Congenital hemophilia
Typically, Hemophilia is inherited, meaning that a person is born with the condition (congenital). Low clotting factors are used to categorise different types of congenital hemophilia.
Hemophilia A is the most prevalent kind and is linked to low levels of factor 8. Hemophilia B, the second most typical kind, is linked to a low level of factor 9.
Acquired Hemophilia
Hemophilia can develop in people who have no family history of the condition. We refer to this as acquired hemophilia.
When clotting factor 8 or factor 9 in the blood is attacked by the immune system, a disease known as acquired Hemophilia develops. It may be connected to:
More about Hemophilia Inheritance
The defective gene is found on the X chromosome in the majority of cases of hemophilia. One sex chromosome from each parent is present in every person. Both the mother's and the father's X chromosomes are passed on to females. Males get their X and Y chromosomes from their parents, respectively.
This indicates that Hemophilia nearly invariably affects boys and is inherited from the mother through a gene in the mother. Most bearers of the faulty gene are female and show no indications or symptoms of hemophilia. On the other hand, if their clotting factors are considerably reduced, some carriers may experience bleeding symptoms.
Risk factors
Having family members with the condition is the major risk factor for hemophilia. Hemophilia is far more common in men than in women.
Complications
Hemophilia complications may include:
- Significant internal hemorrhage The limbs may enlarge if there is deep muscle bleeding. Inflammation that presses on nerves can cause numbness or pain. The location of the bleeding will determine whether it is life-threatening.
- Bleeding into the neck or throat A person's capacity to breath may be impacted by this.
- Injury in the joints Joint pressure from internal bleeding may result in discomfort. Frequent internal bleeding, if left untreated, can lead to arthritis or joint degeneration.
- Infection Human blood-derived clotting factors used to treat Hemophilia increase the risk of viral infections like hepatitis C. The risk is limited because of donor screening procedures.
- A negative response to clotting factor therapy The immune system reacts negatively to the clotting agents used to treat bleeding in some persons with severe hemophilia. When this occurs, the immune system produces proteins that prevent the clotting factors from operating, which reduces the effectiveness of the treatment.
Diagnosis
- Hemophilia C is typically identified within the first year of the disease. Mild forms might not become evident till later in life. Some individuals discover they have Hemophilia after experiencing significant bleeding during surgery.
- Testing for clotting factors can identify clotting factor deficiencies and quantify the severity of haemophilia.
- Genetic testing may be used to detect carriers in persons with a family history of Hemophilia so they may make educated decisions about getting pregnant.
- It is also feasible to find out if the fetus has Hemophilia when the mother is pregnant. The fetus, however, runs some risks from the examination. With your doctor, go over the advantages and disadvantages of the test.
Treatment
The basic method of treating severe Hemophilia is to replace the necessary clotting factor via a catheter in a vein.
A bleeding episode that is already underway can be treated with this replacement therapy. To assist in preventing bleeding episodes, it can also be administered on a regular schedule at home. Some patients get ongoing replacement therapy.
From donated blood, replacement clotting factors can be produced. Recombinant clotting factors, which are comparable products, are manufactured in a lab, not from human blood.
Lifestyle changes and Selfcare
To protect your joints and prevent excessive bleeding:
- Regular exercise Exercises like walking, biking, and swimming help strengthen muscles while protecting joints. Football, hockey, and wrestling are examples of contact sports that are unsafe for those with hemophilia.
- Avoid using some painkillers Aspirin and ibuprofen are two medications that can make bleeding worse. Use acetaminophen, a safer option, as a substitute for modest pain treatment.
- Avoid using blood thinners Heparin, warfarin, clopidogrel, prasugrel, ticagrelor, rivaroxaban, apixaban, edoxaban, and dabigatran are examples of medications that inhibit blood clotting.
- Maintain good oral hygiene The intention is to avoid gum and tooth disease, which can cause excessive bleeding.
- Get your shots Hepatitis A and B immunizations, as well as other recommended vaccinations, should be given to people with Hemophilia at the recommended ages. The risk of bleeding can be decreased by asking for the use of the smallest gauge needle and by having pressure or ice given for 3 to 5 minutes following the injection.
- Protect your child from injuries Keep your youngster safe from wounds that can result in bleeding. Injury from falls and other mishaps can be avoided with the use of knee, elbow, helmet, and safety belt pads. Keep sharp-cornered furniture away from your home.
Dos and Don’ts
| Do’s | Don’ts |
| Take iron-rich food such as green leafy vegetables, broccoli, grains.. | Take carbohydrates such as sweets, chocolates, pastries, soft drinks. |
| Include whole grains in meals with oats, barley, whole wheat, bran, brown rice | Eat oily, deep fried foods. |
| Take a low-fat diet and dairy products. | Drink juices that contain artificial sweeteners. |
| Take good sources of vitamins, dietary fibres, antioxidants. | Drink alcohol or alcoholic beverages. |
| Do exercises advised by the doctor. | Eat condiments high in fat such as mayonnaise or ketchup. |
Hemophilia Care at Medicover Hospitals
At Medicover Hospitals, we have the most trusted team of doctors and medical experts who are experienced in providing excellent healthcare services to the patients with compassionate care. Our diagnostic department is equipped with modern technology and equipment to conduct the tests required for the diagnosis of Hemophilia and other related conditions based on which the most suitable and appropriate treatment plan is designed. We have an excellent team of hematologists who diagnose and treat this condition with utmost precision that brings successful treatment outcomes.
Citations
Guidelines for the management of hemophilia, ID: 10.1111/j.1365-2516.2012.02909.xWFH Guidelines for the Management of Hemophilia, 3rd edition, ID:10.1111/hae.14046
Definitions in Hemophilia, Id:10.1055/s-0037-1615621
Bleeding Symptoms in Carriers of Hemophilia A and B, ID:S10.1055/s-0038-1647493
New therapies for hemophilia, ID:10.1182/blood-2018-08-872291
