Hemophilia is a rare disorder that causes the blood not to clot normally, also known as Christmas disease. It mostly affects males and about 400 babies are born with hemophilia each year. There are two major types of heomphilia, which are also the most common forms; Hemophilia A and Hemophilia B. 1 in 4,000 males with be born with Hemophilia A and 1 in 20,000 with Hemophilia B will be born each year world wide. Hemophilia is caused my mutations in the F8 and F9 genes which provide the instructions for making the proteins called coagulations, which work with the blood clotting process which seals off damages blood vessles and prevents furter blood loss.

Genetics

Hemophilia is carried on the x chromosome, making it an x-linked genetic disorder. Females, who carry two x chromosomes will have one x chromosome with the mutation and the other without and males who have one x and one y chromosome will have it in their only in the x chromosome. The outcome of whether or not a child has hemophilia all depends on the chromosomes they receive from their parents. When a father who has helophilia and a mother without the gene have children the boy will always receive the good x chromosome from the mother and the y , which doesn't carry the gene, from the father, so he will not have hemophilia; but the daughter will always receive the mutated x chromosome from the father, therefore she will be a carrier. When a mother who is a carrier and father who is unaffected have children there are four possible different possiblities; A son without hemophilia, a daughter without hemophilia, a son with hemophilia and a daughter who is a carrier. In the rare situation of a father with hemophilia and a mother who is a carrier have children, there will also be four different possiblities: A daughter with hemophilia, a son with hemophilia, a daughter who is a carrier or a son without hemophilia. There is an equal chance of each outcome with each pregnacy.

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Frequently Asked Questions about Hemophilia

Treatment Options

There are many kinds of treatment for hemophilia. The main treatment is called replacement therapy, which is when concentrates of either clotting factors VIII (Hemophilia A) or IX (Hemophilia B) are injected into a vein. Doing this replaces the blood clotting factor that is missing or low. Unfortunately there may be some complications, including developing antibodies that work against the clotting factor, developing virla infections form it and damage to parts of the body due to delays in treatment. There are also other forms of treatment including: Desmopressin,  Antifibrinolytic Medicines, and Gene Therapy. Click to learn more about treatment.