Hemophilia

Erica Schimmel

Basically...

Hemophilia is a genetic mutation that slows down the process of blood clotting. This means that these people experience longer periods of bleeding after an injury.


There are two types of Hemophilia, type A and B. They have similar indicators and symptoms, but they are caused by two different gene mutations. One difference is that Hemophilia B mostly tapers off after puberty, with excessive bleeding mostly during childhood.

How do you know?

Some symptoms of Hemophilia are:

  • Continuous bleeding from injury for long periods of time (Hours, days, etc.)
  • Bruises that last longer than usual and continuously spread
  • Spontaneous bleeding with no injury
  • Excessive nosebleeds

How do you get it?

Since Hemophilia is a genetic disorder, it is inherited from parents to kids. Hemophilia is sex-linked recessive, so it is fairly rare, but much more common in males than females because it is sex-linked.
Hemophilia A is a mutation in the F8 gene, which causes a deficiency of the coagulating protein factor VIII. Hemophilia B is a mutation in the F9 gene which causes a deficiency of the coagulating factor IX. Coagulating proteins aid in the clotting of blood, so deficiencies in either of these cause abnormal blood clotting.

How do they test for it?

There are three ways to test to see if a baby has/will have Hemophilia.

  1. The most common is having the baby tested after birth. Doctors will complete a screening test on the baby which checks the blood to see if it is clotting correctly. If it is not, they will do a clotting factor test. This is used to diagnose the blood disorder, for example, the type and severity of the Hemophilia. If a baby is found to have Hemophilia, these tests will allow for an effective treatment plan to be created.
  2. Not as common but still effective is testing the baby before it's birth, as early as 12 weeks into the pregnancy. This is done by removing a piece of the placenta from the mother and testing it using the same tests above, as the placenta has the same genetic information as the baby.
  3. A carrier test is a test performed on women usually before they get pregnant. It tests to see if the woman is a carrier of the Hemophilia gene before they have a child. This test is usually given once the woman is old enough to make their own informed decision about it. They are tested the same way as the others, through a screening test and a clotting factor test.

The Issues With Testing...

Testing after the baby is born and before getting pregnant are generally accepted as they allow for the parents to be aware of their babies' condition early and arrange good treatment or be more informed before making the decision to get pregnant. However, the prenatal test has some controversy surrounding it. The main reason why this testing is being looked at is because some people want to find out if their child is affected so that they can terminate the pregnancy early. Many centers actually only offer this test to couples who plan on terminating the pregnancy if the baby is affected. This obviously raises many red flags, as there is a large debate about whether abortion should or should not be allowed to all people. There are many ways that one could approach this debate, yet this is different for every person. The important thing for this testing is that those who get it know that terminating a pregnancy is a difficult decision and are ready to face whatever emotional hurdles come with that decision.

So what do I do about it?

There are multiple severities of Hemophilia:


  • Mild-5-30% of normal protein level
  • Moderate-1-5% of normal protein level
  • Severe-Less then 1% of normal protein level


There is no cure, yet the treatment for Hemophilia is fairly easy and painless. Depending on the type, doctors will give patient more of the protein that they are lacking. This is entered into the body by being mixed with fluid and deposited through an IV.

My Child has it....I need help!

Some parents who find out about their child having Hemophilia need helping handling treatment and may need help themselves as they need to deal with the disorder in their lives as the child grows which is completely normal. There are multiple ways that parents can receive help.


  • Probably the most important for the child and for the parents is that your family has a good relationship with the doctor who will be treating your child. This will insure that you will be able to talk to them about any questions regarding the disorder or your child's health
  • There are also multiple resources for parents who need them, one being an HTC or Hemophilia Treatment Center. Most of these centers also have a social worker there to talk to and work with parents.
  • There are lots of Parent Support Groups that an be found on the internet and social media pages where parents gather to talk and support each other.
  • There are also non-profit organizations that can provide local face-to-face help as well as some social events in order to bring people together. This link will bring you to a site where you can find an organization near you: http://www.hemophiliafed.org/about-hfa/member-organizations/