So if you think about it, women, or females, carry two copies of the hemophilia gene, and if it's changed, one of them is probably working. In males, if the one that's not working correctly is passed on to a boy, that boy has only one copy of the gene on his one X chromosome. His Y chromosome obviously doesn't carry the hemophilia gene, and so that non-working gene doesn't have anything to counterbalance it, and so the individual has hemophilia, or has problems with clotting.
Donna Krasnewich, M. A family may have children with the hemophilia gene and children without it. It is also possible for all the children in the family to inherit the normal gene or all to inherit the hemophilia gene. Figure For a mother who carries the hemophilia gene, the chances of giving birth to a child with hemophilia are the same for each pregnancy.
Even though she already has a child with hemophilia, she can still give birth to another. The father's sex chromosomes are labeled XY, with the X chromosome carrying the hemophilia gene.
If the baby gets the Y chromosome from the father it will be a boy. Since the Y chromosome does not carry the hemophilia gene, a son born to a man with hemophilia and a woman who is not a carrier will not have hemophilia.
If the baby gets the X chromosome from the father it will be a girl. The X chromosome from the father with hemophilia will have the hemophilia gene. But the girl also gets an X chromosome from her mother. The normal blood clotting gene on the X chromosome from the mother is dominant, so the baby girl will not have hemophilia. She will, however, be a hemophilia carrier since she has the hemophilia gene on one of her X chromosomes. So in this case, all sons born to the couple will be normal and all daughters will be hemophilia carriers Figure Father with hemophilia; mother with normal blood clotting gene.
Follow the arrows to see the possible gene combinations. The father's sex chromosomes are labeled XY. The father only passes half of his sex chromosomes to the baby, either the X or the Y. The son can get from the mother either her X chromosome with the hemophilia gene or her X chromosome with the normal blood clotting gene. If the son gets his mother's X chromosome with the hemophilia gene he will have hemophilia.
If he inherits his mother's other X chromosome, he will have normal blood clotting. A baby girl will inherit an X chromosome with a dominant gene for normal blood clotting from her father. So the daughter will not have hemophilia. A daughter will get either her mother's X chromosome with the hemophilia gene or her mother's X chromosome with the normal gene for clotting.
If she gets the X chromosome with the hemophilia gene she will be a carrier. The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly.
This is done by infusing administering through a vein commercially prepared factor concentrates. People with hemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis called prophylaxis , can even prevent most bleeding episodes. Good quality medical care from doctors and nurses who know a lot about the disorder can help prevent some serious problems.
An HTC not only provides care to address all issues related to the disorder, but also provides health education that helps people with hemophilia stay healthy. Learn more about treatment. About percent of people with hemophilia develop an antibody called an inhibitor that stops the clotting factors from being able to clot the blood and stop bleeding. Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed.
People with inhibitors often experience more joint disease and other problems from bleeding that result in a reduced quality of life. Learn more about inhibitors. Skip directly to site content Skip directly to page options Skip directly to A-Z link.
Section Navigation. Facebook Twitter LinkedIn Syndicate. What is Hemophilia? Hemophilia is a bleeding disorder where the blood is unable to clot properly. It can lead to spontaneous bleeding as well as bleeding after injury or surgery.
Those who suffer from hemophilia can bleed longer than usual, although not faster. There are two main types of hemophilia which are hemophilia A and hemophilia B with the former being the most common of the two. Although it is the most common type of hemophilia, it is a rare condition and it affects about one in every 10, males whilst hemophilia B affects one in every 50, males.
The condition arises when a mutation or change occurs in one of the genes that provide instructions for making the clotting factor proteins needed to form a blood clot thus resulting in reduced production or deficiency of the respective clotting factor. A mutation in the F8 gene causes hemophilia A whilst a mutation in the F9 gene results in hemophilia B. Suffers therefore have low levels of either clotting factor VIII or IX and the severity is determined by the level of the factor in the blood.
Due to the sex-linkage of the disorder, the prominence amongst male is greater than in females. Although the disorder mainly affects males, females can be carriers of the affected gene and experience symptoms. Hemophilia is a hereditary bleeding disorder.
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