Hemophilia

1 What is Hemophilia?

Hemophilia is  a condition in which blood does clot normally because  it lacks specific blood-clotting proteins known as clotting factors. Hemophilia is a rare blood condition.  Individuals suffering from hemophilia  may bleed for a longer time after injury than an individual person without hemophilia. Short cuts are not a big problem, the major problem arises  especially during internal bleeding, especially in the knees, ankles and elbows. The internal bleeding can cause damage to organs and other tissues, and may be life-threatening.

Hemophilia is an inherited genetic disorder with no cure. However, with proper treatment and selfcare, most individuals can maintain  and active and productive lifestyle.

2 Symptoms

Signs and symptoms of hemophilia vary depending on the level of clotting factors.  If clotting-factor level is mildly reduced, bleeding can only happen after surgery or trauma. If deficiency is high spontaneous  bleeding can be experienced.

Signs and symptoms of spontaneous bleeding include:

  • unexplained and unexcessive bleeding from cuts or injuries, or after surgeries and dental work,
  • many deep bruises,
  • unusual bleeeding after vaccinations,
  • pain,
  • swelling or tightness in the joints,
  • blood in the urine or stool,
  • nosebleeds without any known cause in infants,
  • unexplained irritability.
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3 Causes

Hemophilia is caused by a genetic change or a spontaneous mutation.

Once an individual bleeds, there body normally has a particular mechanism that  pools blood cells together to form a clot to stop the bleeding. The clotting process is facilitated by certain blood formed elements known as platelets and plasma proteins.

Hemophilia occurs  when there is a deficiency of one or more of these clotting factors.  Hemophilia is inherited. However, about 3 out of 10 people with hemophilia have no family history with the disorder.

There are different  kinds of hemophilia.

They are categorized according to to the absence of  a particular clotting factor:

  • Hemophilia A is the most occurring type, it is caused by deficiency of clotting factor VIII.
  • Hemophilia B, the second most common  type, is caused by insufficient of clotting factor IX.
  • Hemophilia C, which is usually accompanied by mild signs and symptoms is caused by insufficient clotting factor XI. Everyone has two chromosomes, one from each parent. A female inherits  an X chromosome from both parents. A male inherits an X chromosome from his mother and a Y chromosome from his father.

Hemophilia inheritance depends on the type of hemophilia: Hemophilia A or B. The gene that causes them is located on the X chromosome, so it can't be passed from father to son.

Hemophilia A or B almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women with the defective gene are simply carriers and experience no signs or symptoms of hemophilia. Women can experience bleeding symptoms if their factor VIII or IX is moderately decreased.

Hemophilia C can be passed on to children by either parent. Hemophilia C can occur in girls and boys.

4 Making a Diagnosis

Hemophilia diagnosis can be made at an average age of nine months and almost always before the age of two.  Children can be referred to a hematologist (doctor who specializes in blood disorders).

It is very important to write a child's symptom and the duration they have been experiencing those symptoms.

It is crucial to add in information like the medications, vitamins and other supplements the child is taking. Taking note of the reality that anyone else in the family may have a blood disorder.

Questions to ask your child's doctor:

  • What's the most likely cause of my child's signs and symptoms?
  • What kinds of tests does my child need? Do they require any special preparation?
  • What treatment do you recommend?
  • What activity restrictions will my child need to follow?
  • What additional steps can I take to ensure my child's safety?
  • What can I do to help my child live as normally as possible?
  • How will you monitor my child's health over time?
  • What is my child's risk of long-term complications?
  • Do you recommend that our family meet with a genetic counselor?

In addition, one must not  hesitate to ask other questions during their particular medical  appointment. The doctor is also likely to pose  a number of questions. It is very advisable to be ready to answer them may make time to go over points that require more time to be spent on.

The following questions  can  be asked:

  • What are your child's symptoms, and when did you first notice them?
  • Have you noticed any unusual or heavy bleeding, such as nosebleeds or prolonged bleeding from a cut or vaccination?
  • Have you noticed blood in your child's urine or stool?
  • Has your child undergone any surgeries, and, if so, did the surgeon feel there was excessive bleeding?
  • Have you noticed heavy bruises?
  • Has your child complained of pain or warmth around his or her joints?
  • Has anyone in your family been diagnosed with a bleeding disorder?
  • Are you planning to have more children?

For individuals with a family history of hemophilia, it's possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing can hold very high risks for the fetus. Hemophilia is diagnosed at an average age of 9 months and almost always by age 2. Sometimes, mild hemophilia isn't diagnosed until a person undergoes surgery and experiences excessive bleeding.

5 Treatment

There is no known cure for hemophilia, with proper treatment and selfcare, most individuals can maintain and active and productive lifestyle. Therapies to stop bleeding depend on the kind of hemophilia present. In the case of mild hemophilia,  a slow injection of the of a hormone known as desmopressin into a vein can stimulate a release of more clotting factor to stop the bleeding. Sometimes desmopressin can be given as a nasal medication. 

In moderate to severe hemophilia A or hemophilia B,  bleeding may stop after an infusion of recombinant clotting factor which originates from donor human blood.  In other cases repeated infusion may be needed, especially if the severity of the bleeding is high.

In hemophilia C, the clotting factor missing is factor XI. This type of hemophilia is available only in Europe.  A doctor can also recommend the following for ongoing treatment:

  • Regular infusions of DDAVP or clotting factor to help prevent bleeding.
  • Clot-preserving medications (antifibrinolytics)to help in the prevention of the breaking down of clots.
  • Fibrin sealants can be applied directly to wound sites to promote clotting and healing. These medications are especially useful in dental therapy.
  • Physical therapy can ease signs and symptoms if internal bleeding has damaged the joints. In case of severe damage, surgery will be required. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.

Although blood products are screened, it's still possible for people who rely on them to contract diseases. Anyone with hemophilia must consider receiving immunization against hepatitis A and B.

6 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with hemophilia.

The following can be done to avoid excessive bleeding and to protect the joints:

Regular exercise can be done. These activities may include swimming, cycling and walking. These exercises are known for not only building muscles, but also for protecting the joints.

Any contact sport such as basketball, football or wrestling is not advisable for an individual with hemophilia. Certain pain medication such as aspirin and ibuprofen can aggravate bleeding. It is generally safer to utilize acetaminophen, which is a better alternative. Medications that prevent blood from clotting must be completely avoided, this inlude medications like heparin, warfarin, clopidogrel and prasugrel. Another way is to try preventing tooth extraction by maintaining a very good dental hygiene.

It is also helpful to protect children from injuries by using protective gear.

Any sharp objects or basically a potential causes of bleeding must be gotten rid of. It is also advisable to let anyone in the circle of  an individual with hemophilia know about their condition as this will also help reduce any risk of injury which might lead to bleeding.

7 Risks and Complications

Complications of hemophilia include the following:

  • bleeding that occurs in deep muscle  can cause the limbs to swell up. This swelling can press on vital structures such as nerves and can lead to numbness and pain.
  • Internal bleeding can also put an amount of pressure on the joints, causing severe pain.
  • If left untreated, frequent internal bleeding can lead to arthritis or destruction of the joint.
  • People with hemophilia are more likely to have blood transfusions, this further increases the risk of receiving contaminated blood products and lead to an infection.
  • In some individuals with hemophilia, the immune systrm has negative reaction to the clotting factors used to treat bleeding. When this happens, the immune system develops proteins (known as inhibitors) that inactivate the clotting factors, making treatment less effective.
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