Sophia Hogg

Hemophilia: Symptoms, Causes and Treatment

WHAT IS HEMOPHILIA ?

Hemophilia is an unusual disorder in which your blood does not clot generally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you might bleed for a longer time after an injury than you would if your blood clotted generally.

Small cuts generally are not much of a problem. If you have a serious deficiency of the clotting factor protein, the greater health concern is deep bleeding inside your body, particularly in your knees, ankles, and elbows. That internal bleeding could damage your organs and tissues and might be life-threatening.

Hemophilia is a genetic disease. Treatment includes regular replacement of the certain clotting factor that is decreased.

HEMOPHILIA SYMPTOMS

Signs and symptoms of hemophilia change, depending on your level of clotting factors. If your clotting-factor level is mildly decreased, you might bleed only after surgery or trauma. If your deficiency is serious, you might experience spontaneous bleeding.

Signs and symptoms of spontaneous bleeding involve:

  • Unexplained and extreme bleeding from cuts or injuries, or after surgery or dental work
  • Many large or deep bruises
  • Uncommon bleeding after vaccinations
  • Pain, inflammation, or tightness in your joints
  • Blood in your urine or stool
  • Nosebleeds without a known cause
  • In infants, unexplained irritability

BLEEDING INTO THE BRAIN

A simple bump on the head could cause bleeding into the brain for some people who have serious hemophilia. This rarely occurs, but it is one of the most serious complications that could happen. Signs and symptoms include:

  • Painful, prolonged headache
  • Repeated vomiting
  • Sleepiness or lethargy
  • Double vision
  • Unexpected weakness or clumsiness
  • Convulsions or seizures

WHEN SHOULD YOU SEE A DOCTOR ?

Look for emergency care if you or your child experiences:

  • Signs or symptoms of bleeding in the brain
  • An injury in which the bleeding would not stop
  • Inflamed joints that are hot to the touch and painful to bend
  • If you have a family history of hemophilia, you might want to experience genetic testing to see if you are a carrier of the disease before you begin a family

HEMOPHILIA CAUSES

When you bleed, your body generally pools blood cells together to form a clot to prevent the bleeding. The clotting process is encouraged by specific blood particles. Hemophilia happens when you have a deficiency in one of these clotting or coagulation factors.

There are numerous types of hemophilia, and most types are inherited. Although, about 30 percent of people with hemophilia have no family history of the disease. In these people, a sudden change happens in one of the genes related to hemophilia.

Acquired hemophilia is an unusual variety of conditions that happens when a person’s immune system attacks clotting or coagulation factors in the blood. It could be related with

  • Pregnancy
  • Autoimmune conditions
  • Cancer
  • Multiple sclerosis

HEMOPHILIA INHERITANCE

In the most common forms of hemophilia, the flawed gene is located on the X chromosome. Everyone has 2 sexual chromosomes, one of each parent. A woman inherits or receives one X chromosome from her mother and one X chromosome from her father. A man receives one X chromosome from his mother and one Y chromosome from his father.

This means that hemophilia almost always happens in boys and is passed from mother to son through one of the mother’s genes. Most females with the flawed gene are just carriers and experience no signs or symptoms of hemophilia. But some carriers could experience bleeding symptoms if their clotting or coagulation factors are moderately decreased.

HEMOPHILIA RISK FACTORS

The largest risk factor for hemophilia is to have family members who also have the disorder.

HEMOPHILIA COMPLICATIONS

Complications of hemophilia might include:

  • Deep internal bleeding – Bleeding that happens in deep muscle could cause your limbs to swell. The swelling might press on nerves and lead to numbness or pain.
  • Damage to joints – Internal bleeding might also put pressure on your joints, causing serious pain. Left untreated, frequent internal bleeding might cause arthritis or destruction of the joint.
  • Infection – People with hemophilia are likelier to have blood transfusions, escalating their risk of receiving contaminated blood products. Blood products became safer after the mid-1980s because of the screening of donated blood for hepatitis and HIV.
  • Adverse reaction to clotting factor treatment – In some people with serious hemophilia, the immune system has a negative reaction to the clotting or coagulation factors used to treat bleeding. When this occurs, the immune system develops proteins (called inhibitors) that inactivate the clotting or coagulation factors, making treatment less effective.

HEMOPHILIA DIAGNOSIS

For people with a family history of hemophilia, it is possible to determine at the time of pregnancy if the fetus is affected by hemophilia. Although, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your primary care physician.

In children and adults, a blood test could reveal a clotting-factor deficiency. Depending upon the seriousness of the deficiency, hemophilia symptoms could first arise at various ages.

Serious cases of hemophilia generally are diagnosed within the first year of life. Mild types might not be apparent until adulthood. Some people first learn that they have hemophilia after they bleed extremely at the time of a surgical procedure.

HEMOPHILIA TREATMENT

Various different types of clotting or coagulation factors are related to different varieties of hemophilia. The main treatment for serious hemophilia involves receiving replacement of the certain clotting or coagulation factor that you require through a tube placed in a vein.

This replacement therapy could be given to combat a bleeding episode that is in progress. It could also be injected on a regular schedule at home to help stop bleeding episodes. Some people receive continuous replacement therapy.

Replacement clotting factor could be made from donated blood. Similar products, known as recombinant clotting factors, are manufactured in a laboratory and are not made from human blood.

OTHER THERAPIES MIGHT INCLUDE:

  • Desmopressin – In some types of mild hemophilia, this hormone could stimulate your body to release more clotting factors. It could be administered slowly into a vein or offered as a nasal spray.
  • Clot-preserving medications – These medications help stop clots from breaking down.
  • Fibrin sealants – These medicines could be applied directly to wound sites to promote clotting and healing. Fibrin sealants are particularly helpful in dental therapy.
  • Physical therapy – It could ease signs and symptoms of internal bleeding that has damaged your joints. If internal bleeding has caused serious damage, you might require surgery.
  • First aid for minor cuts – Using pressure and a bandage will usually take care of the bleeding. For small regions of bleeding beneath the skin, use an ice pack. Ice pops could be used to slow down minor bleeding in the mouth.
  • Vaccinations – However, blood products are screened, it is still possible for people who rely on them to contract diseases. If you have hemophilia, consider getting vaccinated against hepatitis A and B.

If you or anyone you know is suffering from hemophilia, our expert providers at Specialty Care Clinics will take care of your health and help you recover.

Call 469-805-4561 to book a telehealth appointment for an at-home check-up.

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