Post 13: How possible is it that a cure for hemophilia will be discovered?

It’s highly unlikely that a cure for this genetic disease will be discovered. Perhaps in the future through gene therapy it will be possible to better treat hemophiliacs, but it’s impossible to cure it. Similar to other genetic disorders, hemophilia is integrated in one’s DNA (deoxyribonucleic acid) and, of course, genes. Since we can’t change either, we can’t fully extinguish the illness.

Post 12: Organizations to help a family cope with a child’s disorder

MDJunction (a forum)

HFA (Hemophilia Federation of America)

The Haemophilia Society

EHC (European Haemophilia Consortium)

First Step

National Hemophilia Society (a list of organizations for individual states)

Post 11: What limitations do hemophiliacs have?

Hemophiliacs need just be careful. Since they bleed/bruise very easily, it’s best to avoid dangerous activities such as rigorous contact sports. (Football, wrestling, etc.) Hemophiliacs should also think twice about biking or rollerblading, as one may fall. Fortunately, hemophiliacs don’t have too many limitations; they can live pretty normal lives.

Post 10: What is every day life like? What is the quality of life?

A hemophiliac’s quality of life is much like others’ qualities of life. Of course, hemophiliacs must take extra care and think twice about certain routines, but nothing major. Hemophiliacs just need to be cautious and careful. Just like everyone else, they should exercise regularly (with the exception of contact sports — football, hockey, etc.) Hemophiliacs should also avoid certain drugs like aspirin, Motrin, Advil, and heparin. These drugs should be avoided as they decrease one’s blood’s ability to coagulate. Common sense should also tell one to protect his or her kid(s) (if they happen to be hemophilic) by giving them proper safety devices (knee pads, helmets, etc.) as well as making sure there’s nothing dangerous or sharp in or around the house.

Additionally, as I stated in an earlier post, hemophiliacs can expect to live almost as long as unaffected people.

Post 9: How can hemophilia be treated?

Hemophilia can be treated with an array of drugs. The entire purpose of these treatments are to replace the missing clotting factors into one’s bloodstream. These drugs can be administered both on a normal schedule and/or when needed.

Common drugs used for treatment of hemophilia A:

• Advate (contains naturally-occuring proteins that assist in clotting)
• Autoplex T (coagulant)
• Cyklokapron (preserves blood clots)

There are, of course, many more drugs on the market. Click here to see more. Additionally, there are drugs manufactured exclusively for hemophilia B. Click here for a list of those.

Post 8: What is the life expectancy of a hemophiliac?

The life span of a hemophiliac varies with not only the the severity of the disorder but also treatment. Mild cases will, of course, live longer than those with an extreme case. Additionally, one who is treated correctly will live longer than someone without adequate help. On average, however, a treated hemophiliac can expect to live a relatively long life, just ten years less than one unaffected by hemophilia.

Post 7: Symptoms of hemophilia

Most of the symptoms related to hemophilia deal with bleeding and/or bruising. Here are some specific scenarios:

• Bruising easily
• Spontaneous nosebleeds
• Blood in pee
• Bleeding into muscle after getting a shot
• Internal bleeding
• Heavy bleeding during a boy’s circumcision
• Prolonged bleeding from minor injuries such as paper cuts, losing a tooth, etc.

Post 6: How is hemophilia diagnosed?

There are multiple methods of diagnosis of this disorder. Here are some different practices:

• Factor Assays (can determine the amont of clotting factors VIII and IX and compare it to the amounts of the factors in a normal person. This assists in determining the type of hemophilia one has and how bad he or she is affected.)
• Simple blood tests (to determine how long it takes for the blood to clot and the levels of clotting factors.)

A child can even be tested before birth. Here are some methods of prenatal diagnosis:

• Ultrasound (one can determine the gender then proceed with further testing if the fetus is a boy.)
• Chorionic Villious Sampling (CVS)
• Amniocentesis (looks at DNA of the fetus’s cells floating around in the mother’s amniotic fluid. Amniocentesis is similar to CVS, except for the fact that CVS is conducted earlier in the pregnancy.)
• Fetal blood tests

Post 5: Chances of passing on hemophilia

Hemophilia is easily spread from parents to offspring. There are five possible scenarios in which a child can receive hemophilia from his or her parents:

• affected dad + unaffected mom (Square 1)
• affected dad + carrier mom (Square 2)
• affected dad + affected mom (Square 3)
• normal dad + carrier mom (Square 4)
• normal dad + affected mom (Square 5)

Here are the corresponding Punnett Squares:

• Square 1: 0% of children will be hemophilic. However, 100% of daughters will be carriers.
• Square 2: 50% of children will be hemophilic. 50% of daughters will be hemophilic, 50% will be carriers. 50% of males will be hemophilic, 50% will not.

• Square 3: 100% of children will be hemophilic.
• Square 4: 25% of children will be hemophilic. 50% of girls will be carriers, 50% will not be affected. 50% of males will be hemophilic, 50% will not.

• Square 5: 50% of children will be hemophilic. 100% of girls will be carriers, 100% of males will be hemophilic.

These are all the possible ways that children can inherit hemophilia from their parents. I hope this post wasn’t too difficult to follow. ;)

Post 4: How prevalent is hemophilia in the population?

Hemophilia is rather uncommon in the population. For specific statistics, we’ll have to break hemophilia into its two types—since there are, in fact, two types—hemophilia A and hemophilia B. About one in five-thousand male babies are diagnosed with hemophilia A per year. Hemophilia B is much rarer; only one in thirty-thousand male babies are diagnosed with this type a year.

Post 3: Possible genotypes of parents

Here are the possible genotypes for the parents to be:

Mother:

• XX (unaffected)
• X’X (carrier)
• X’X’ (hemophilic)

Father:

• XY (unaffected)
• X’Y (hemophilic)

Post 2: How does one inherit hemophilia?

Hemophilia is an x-linked disease. Although both genders can acquire the disorder, it is more common for males to show the symptoms. This is because of the chromosomal make-up of humans. Males are XY, females are XX. Hemophilia afflicts the X chromosome, so if a male has an affected X chromosome, he has the disease. Females, however, are different. Because they have two X chromosomes, it’s very rare for a woman to get the disorder. This is because their “good” X overshadows their bad one (since hemophilia is recessive). In the event that both of her Xs are affected, she has hemophilia and will display the same symptoms (profuse bleeding, easy bruising, etc.) that any male with the disease would. In fact, there are only two ways for a female to have hemophilia; if the father and the mother both have the disease. The other way is if the father is affected but the mother is a carrier. Here are two Punnett Squares to display what I mean. Punnett Square 1 symbolizes the first possibility (both parents have the disease) and Punnett Square 2 symbolizes the second possibility that which a female can get hemophilia.

A female can be a carrier as well, meaning only one X is affected; she wouldn’t exhibit the symptoms that a man would show, but she can spread the disease to her offspring, even with a husband who tests negative for the disease. Likewise, a positive man can cause his daughters to be carriers. These facts can be evidenced by the following Punnett Squares:

As seen in Square 3, the carrier mother takes a seventy-five percent chance of giving the disease to her kids; one hundred percent chance of making a daughter a carrier and fifty percent chance of causing her son to be a hemophiliac. To continue, a hemophilic father mating with an unaffected woman would certainly cause one hundred percent of daughters to be carriers. No sons would be affected as proven by Square 4.

Hemophilia is a recessive x-linked disease that mostly affects men, but in rare cases, can afflict women as well.

Post 1: What is a genetic counselor?

Job Details: Genetic counselors provide information to families affected by a genetic disease or to families with a risk of inheriting diseases. Genetic counselors gather information on a specific disease and then shares that information with the family such as knowledge about the illness itself and inheritance patterns. Additionally, genetic counselors support the families by counseling them and pointing them in the right direction in the way of other support services. As for pay, one can expect to earn $40,000-$80,000 per year.

Education: The minimum education required to become a genetic counselor is to earn a master’s degree. Of course, a counselor must have knowledge of genetics and genetic diseases.

Qualifications: A genetic counselor must have at least a master’s degree in genetic counseling. Additionally, genetic counselors should be certified, although are not required to be, by the American Board of Genetic Counseling.

Works Cited

[WordPress does not support indentations, therefore the lines subsequent to the first cannot be indented as is normally required.]

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Hello

I’ll start researching and making my posts at a later time.