Description

Hemophilia is a rare disorder in which the blood does not clot in the typical form because it does not have sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood to clot properly.

Small cuts in general is not much of a problem. If you have a severe form of the disease, the main concern is bleeding inside your body, especially in the knees, ankles and elbows. Internal bleeding can damage your organs and tissues and be life-threatening.

Hemophilia is almost always a genetic disorder. The treatment includes regular replacement of the specific clotting factor that is reduced. New therapies that do not contain clotting factors, are also being used.

Symptoms

The signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting factor level is slightly reduced, you may bleed only after surgery or trauma. If the deficiency is severe, it can bleed easily for seemingly no reason.

The signs and symptoms of spontaneous bleeding include:

  • Unexplained and excessive bleeding from wounds or injury, or after surgery, or dental work
  • Many large or deep bruises
  • Unusual bleeding after vaccinations
  • Pain, swelling, or stiffness in the joints
  • Blood in the urine or stools
  • Nasal bleeding without a known cause
  • In infants, unexplained irritability

Bleeding in the brain

A simple blow to the head can cause bleeding in the brain of some people who have severe hemophilia. This rarely happens, but it is one of the most serious complications that can occur. Signs and symptoms include:

  • Painful, prolonged headache
  • Repeated vomiting
  • Drowsiness or lethargy
  • Double vision
  • Sudden weakness or clumsiness
  • Convulsions or seizures

When to see a doctor

Seek emergency medical attention if you or your child has:

  • Signs or symptoms of bleeding in the brain
  • An injury in which the bleeding does not stop
  • The inflammation of the joints that are warm to the touch, and painful to bend

Causes

When a person is bleeding, the body normally the pools of cells from the blood to form a clot to stop the bleeding. Clotting factors are proteins in the blood that work with cells known as platelets to form clots. Hemophilia occurs when the clotting factor that is missing or levels of the factor are low.

Hemophilia, congenital

Hemophilia is usually inherited, which means that a person is born with the disorder (congenital). Hemophilia congenital is classified by the type of clotting factor that is low.

The most common type is hemophilia A, associated with a low level of factor 8 The next most common type is hemophilia B, associated with a low level of factor 9.

Acquired hemophilia

Some people develop hemophilia have no family history of the disease. This is called acquired hemophilia.

Acquired hemophilia is a variety of the condition that occurs when a person's immune system attacks clotting factor 8 or 9 in the blood. May be associated with:

  • Pregnancy
  • Autoimmune diseases
  • Cancer
  • Multiple sclerosis
  • Drug reactions

The inheritance of hemophilia

In the most common types of hemophilia, the defective gene is located on chromosome X. everyone has two sex chromosomes, one from each parent. Females inherit an X chromosome from the mother and an X chromosome from the father. Males inherit an X chromosome from the mother and a y chromosome from the father.

This means that the hemophilia almost always occurs in children and is transmitted from mother to child through one of the mother's genes. The majority of women with the defective gene are carriers who have no signs or symptoms of hemophilia. But some companies may have symptoms of bleeding if your clotting factors are moderately decreased.

Risk factors

The greatest risk factor for hemophilia is to have family members who also have the disorder. Men are much more likely to have hemophilia women.

Complications

Complications of hemophilia may include:

  • Deep internal bleeding. The bleeding that occurs in the deep muscles can cause the limbs to swell. The swelling can put pressure on the nerves and cause numbness or pain. Depending on where the bleeding occurs, it could be deadly.
  • Bleeding in the throat or neck. This can affect a person's ability to breathe.
  • The damage to the joints. Internal bleeding can put pressure on the joints, causing severe pain. Left without treatment, it is common for the internal bleeding can cause arthritis or joint destruction.
  • Infection. If the clotting factors are used for the treatment of hemophilia from human blood, there is an increased risk of viral infections such as hepatitis C. Due to the detection of donor techniques, the risk is low.
  • The adverse reaction to the clotting factor treatment. In some people with severe hemophilia, the immune system has a negative reaction to the clotting factors used to treat the bleeding. When this happens, the immune system develops proteins that maintain the clotting factors from working, making the treatment less effective.

Diagnosis

Severe cases of hemophilia usually are diagnosed in the first year of life. In the milder forms may not be apparent until adulthood. Some people learn they have hemophilia, after that bleed excessively during a surgical procedure.

Clotting Factor tests can reveal a clotting-factor deficiency and determine the severity of hemophilia is.

For people with a family history of hemophilia, a genetic test could be used to identify carriers to make informed decisions about becoming pregnant.

Also it is possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.

Treatment

The main treatment for severe hemophilia consists in the replacement of clotting factor that you need to through a tube in a vein.

This replacement therapy can be given for the treatment of a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy.

Replacement of clotting factor can be made from the donated blood. Similar products, called recombinant clotting factors are made in a lab, not of human blood.

Other therapies include:

  • Desmopressin. In some forms of mild hemophilia, this hormone can stimulate the body to release more of the clotting factor. It can be injected slowly into a vein or used as a nasal spray.
  • Emicizumab (Hemlibra). This is a new drug that does not include the coagulation factors. This medicine may help prevent bleeding episodes in patients with hemophilia A.
  • Clot-the preservation of the medications. Also known as anti-fibrinolytics, these medicines help prevent blood clots from breaking down.
  • Fibrin sealants. These can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful for the dental work.
  • The physical therapy. You can relieve the signs and symptoms if an internal hemorrhage that has damaged their joints. Severe damage may require surgery.
  • First aid for minor injuries. The use of pressure and a bandage will generally take care of the bleeding. For small areas of bleeding under the skin, apply an ice pack. Ice cream can be used to stop the bleeding in the mouth.

Lifestyle and home remedies

To avoid excessive bleeding and protect your joints:

  • Exercise regularly. Activities such as swimming, bicycling, and walking can build muscle, while the protection of the joints. Contact sports — such as football, hockey or wrestling, are not safe for people with hemophilia.
  • Avoid the use of certain drugs for the pain. The medications that may aggravate the bleeding, which include aspirin and ibuprofen (Advil, Motrin IB, others). In contrast, the use of acetaminophen (Tylenol, others), which is a more secure alternative for mild pain relief.
  • Avoid blood-thinning medications. Drugs that prevent blood clotting include heparin, warfarin (Jantoven), clopidogrel (Plavix), prasugrel (Effient), ticagrelor (Brilinta), rivaroxaban (Xarelto), apixaban (Eliquis), edoxaban (Savaysa), and dabigatran (Pradaxa).
  • Practice good dental hygiene. The goal is to prevent tooth and gum disease, which can lead to excessive bleeding.
  • Get the shots. People with hemophilia should receive the recommended vaccines at the appropriate age, as well as hepatitis a and B. it Requests the use of smaller-gauge needle, and the pressure or the ice applied for 3 to 5 minutes after the injection can reduce the risk of bleeding.
  • Protect your child from injuries that can cause bleeding. Knee pads, elbow pads, helmets and safety belts help prevent injuries from falls and other accidents. Keep your home free of furniture with sharp corners.

Coping and support

To help you and your child cope with hemophilia:

  • Get a medical alert bracelet. This allows the medical staff know that you or your child has hemophilia, and the type of clotting factor that is the best in case of an emergency.
  • Speak with a counselor. To achieve the balance between keeping your child safe and encouraging as a large part of the activity as possible can be tricky. A social worker or therapist with the knowledge of hemophilia can help to identify the least amount of limitations that your child needs.
  • Let people know. Make sure you tell the person who is going to take care of his son — nannies, housekeepers, child care workers, family members, friends, and teachers about the condition of your child. If your child plays sports, non-contact, be sure to tell the coaches, too.

Preparing for your appointment

If you or your child has signs or symptoms of hemophilia, you may be referred to a doctor who specializes in blood disorders (hematologist).

What you can do

Make a list of:

  • Symptoms and when they began
  • Key medical information, including other conditions, and a family history of bleeding disorders
  • All the medications, vitamins and supplements, including doses

Questions to ask your doctor

  • What is the most likely cause of these signs and symptoms?
  • What tests are needed? Do not require special preparation?
  • What treatment do you recommend it?
  • What activity restrictions are recommended?
  • What is the risk of long-term complications?
  • Do you recommend that our family to meet with a genetic counselor?

Do not hesitate to ask other questions as well.

What to expect from your doctor

Your doctor may ask you a series of questions, including:

  • Have you noticed any unusual bleeding, such as nosebleeds or prolonged bleeding from a cut or vaccination?
  • If you or your child has had surgery, did the surgeon to mention excessive bleeding?
  • Do you or your child is likely to develop large, deep bruises?
  • Do you or your child have pain or heat around the joints?
Symptoms and treatment of Hemophilia