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Elizabeth Oliver

on 13 April 2016

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Transcript of Hemophilia

By: Libby Oliver
What Chromosome is found on it?
Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

How do you inherit this disorder?

In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting. However, about 10 percent of carrier females have less than half the normal amount of one of these coagulation factors; these individuals are at risk for abnormal bleeding, particularly after an injury, surgery, or tooth extraction.
Hemophilia cannot be cured but treatment may help.
Treatment includes injections of a clotting factor or plasma.
Aminocaproic acid by injection or by mouth (Amicar),
Desmopressin by injection, by mouth (Ddavp),
or nasally (DDAVP)
Tranexamic acid by mouth (Lysteda),
or by injection (Cyklokapron)
Also common
IV fluids
The gene with the instructions for making factor is found only on the sex chromosome labeled X. If the gene is faulty, the result is hemophilia unless there is a dominant, normal gene on a matching X chromosome. Hemophilia is a sex-linked recessive disorder.

Is it a sex-linked gene?

Hemophilia is when blood cannot clot properly, excessive bleeding (external and internal) occurs after any injury or damage.
What are the symptoms that a person has with the condition?

What is Hemophilia?

Pain areas: In the joints
Also common: Bleeding, blood in stool, blood in urine,
bruising, heavy or prolonged periods, internal bleeding,
nosebleed, or swollen joint.
Who Discovered Hemophilia

Dr. John Conrad Otto.
How often does this occur in the population?

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.
Is it more frequent among men or women? .
It is more frequent among men and right now about 20,000 males in the
United States have it.
Is it more common in one ethnicity?
Hemophilia affects people from all racial and ethnic groups.
How does it get diagnosed?

Hemophilia is diagnosed with blood tests to determine if clotting factors are missing or at low levels, and which ones are causing the problem.
Do those symptoms change with age or with the
progression of the disorder?

Yes, Hemophilia progresses as you get older.
What kinds of test can determine whether a person has hemophilia or not? When is the testing done?

The only way to detect hemophilia is through a blood test to measure the clotting factor level. If hemophilia is known to run in a family, newborn babies should be tested. You can test for hemophilia A and B when a baby is born. The blood can be drawn from the umbilical cord. However, the factor IX level in a newborn baby is lower than it will be later in life. Repeating the test at 6 to 12 months of age can show the factor IX level a person can expect to have the rest of his life.
Is the disease life ending? When does it occur if it is? What is the life expectancy of someone with this disease?

The life expectancy of someone with hemophilia depends a lot on whether they get proper treatment. Without good treatment many will die before they reach adulthood. But with proper treatment life expectancy is about 10 years less than someone without hemophilia.
Genetic Counseling
What is the role of a genetic counselor?
Genetic counselors help explain the risks of genetic disorders and make recommendations about testing and treatment.
Who would use them?
All pregnant women should consider being tested for Down Syndrome and anyone who has risk factors like an inherited disease, miscarriages, or pregnancy over age 35.
Could this be used for everyday traits that we inherited?
Genetic counselors specialize in keeping people healthy not things like choosing eye color, or detached earlobes.
Would people with hemophilia benefit from using a genetic counselor?
The sooner people find out that they or their babies have hemophilia, the sooner they can seek treatment so they can live longer, healthier lives.
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