Hemophilia a and B as an Inherited Disorder

Hemophilia A and Hemophilia B are inherited in a X-linked patter. Sudden effects of hemophilia include sudden pain, swelling, and warm joints, in the knees, elbows, hips and possibly your shoulders. Common symptoms are blood in stool, blood in urine, internal bleeding or swollen joints. Hemophilia occurs in about 1 of every 5,000 male births. Currently, about 20,000 males in the United States are living with the disorder. Hemophilia A is about four times as common as hemophilia B, and about half of those affected have the severe form. Hemophilia affects people from all racial and ethnic groups.

Hemophilia has been called a “royal disease". This is because the hemophilia gene was passed from Queen Victoria, who became Queen of England in 1837, to the ruling families of Russia, Spain, and Germany. Queen Victoria’s gene for hemophilia was caused by spontaneous mutation. Hemophilia is a genetic, but rare disorder that does not allow your blood to clot properly, which in turn, can make it hard for you to stop bleeding. This is often caused by an abnormality in DNA that causes substances called clotting factors to operate, abnormally. It is primarily an inherited disorder; the inheritance of hemophilia C follows an autosomal recessive pattern.

The gene that causes the deficiently is not present on a sex chromosome and the condition can affect both genders equally. For example, if a female who inherits one affected X chromosome, it becomes a carrier of hemophilia. She can then pass it on to her children. A female carrier can sometimes have symptoms of hemophilia, also known as mild hemophilia. The carrier of the affected X chromone can also lead a full life but they have a clotting level between 30% and 70%. The most they can possibly suffer is heavy menstrual bleeding. The chance of having hemophilia depends on whether the parents. If they = have hemophilia or are carriers. If the father has hemophilia and the mother is a carrier, sons will have probably have a chance of having hemophilia.

Currently, there is not a cure for hemophilia. But scientists are always trying to find a cure. They believe the answer lies in gene therapy. The chemical “directions” for blood clotting are found on a certain gene in each cell of the body. Thus, males can have a disease like hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. Females can also have hemophilia, but this is much rarer. In such cases both X chromosomes are affected or one is affected and the other is missing or inactive.

Gene Therapy Helps Patients with Hemophilia. During the clotting process, blood cells become trapped in a fibrous mesh, which is formed with the help of clotting factor IX. Gene therapy is when DNA is transferred into body tissues. It specifically targets cells in the body which are not passed on to the person’s children. Institute researchers are exploring the possibility of treating the disorder with gene therapy. Their strategy is to engineer mesenchymal stem cells, a type of adult stem cell, so that they produce high levels of factor Being able to cure hemophilia with stem cell transplants would be really good.