Hemophilia is an inherited disease which slows the blood clotting process due to missing or reduced clotting factor proteins. Although uncommon, it is possible for Hemophilia to be acquired if the body produces antibodies that attack clotting factors. Only 30% of Hemophilia cases are due to spontaneous mutations. Hemophilia is a rare disorder. Approximately 1 in 5000 males has Hemophilia.
A man with Hemophilia will pass the gene down to his daughters, leading to them becoming carriers. A woman with the gene has a fifty percent chance of passing the gene down on to her sons. If there was no family history of Hemophilia but the woman is a carrier, a son could possibly be the first one in the family to have it. If there’s one thing for certain about hemophilia is that it does not discriminate against anyone. Hemophilia has affected royalty as well as high and low class men all throughout history.
Description Hemophillia is a rare bleeding disorder in which the blood does not clot normally. Hemophillia is usually inherited and people born with it have little or no clotting factor (a protein needed for normal blood clotting). These proteins work together with platelets to help the blood clot. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels. Hemophillia usually occurs in males with about 1 in every 5 000 males being born with the disease each year.
There is a fifty percent chance that the sons of a female carrier will have hemophilia. There also is a fifty percent chance that the daughters of a female carrier will be carriers of hemophilia. In addition, all daughters of men with hemophilia are carriers, but his sons are unaffected. Men cannot transmit hemophilia, and female carriers are free of the disease. Hemophilia is the most common hereditary blood disorder.
According to the Gale Encyclopedia of Nursing and Allied Health, hemophilia also spelled haemophilia, is a genetic disorder of the mechanism of blood clotting that is usually inherited (Fallon 1276). The symptoms of this disease can range from mild to severe which makes prognosis very difficult to determine. Sylvia Mader says, “Hemophilia is called the bleeder’s disease because the affected person’s blood either does not clot or clots very slowly” (489). Hemophilia is a rare genetic disease that affects 1 in 5,000 male births while about 400 babies with hemophilia are born each year (“CDC”). When a normal human being receives a laceration or abrasion, it is usual for some small amount of bleeding to occur.
Cystic fibrosis is the most common inherited fatal disease of Caucasians, occurring about once in every 2500 births. If both parents carry the gene responsible for the disease, they have a one-in-four chance of having an affected child. In 1989, the gene responsible for cystic fibrosis was identified on chromosome 7 (out of 23 chromosomes). Since that time more than 200 different mutations in the cystic fibrosis gene have been described, and tests have been developed to detect the most common alterations. These tests can identify unaffected carriers of the disorder.
Type B is when the Hemophiliac lacks blood clotting factor nine (Medicalnewtoday.com). A Hemophiliac is the name given to people with this disorder. Type A takes place in about one in every 10,000 child births and Type B is one in every 50,000 child births. This disorder originates hereditarily from the mother to child, mostly from mother to baby boy. It is induced by another disorder where the baby has a deformity in one of the clotting factors genes which sticks to the X chromosome.
This buildup can cause liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders, and cancer. When discovered by Armand Trousseau in 1865, it was looked at as extremely rare. (Doctors Lounge, post) Later on in history, it was discovered that many people with western European descent either carried or expressed the hemochromatosis gene. Statistics show 1 in 4 people with western descent carry the gene for hemochromatosis, but only 200 people of western European descent express the gene. (Mo... ... middle of paper ... .... People with hemochromatosis don’t get diseases like malaria either because their immune system is strong enough to withstand the bacteria.
HNPCC is a autosomal dominant disease, meaning that children have a 50% chance of inheriting the genetic trait from one of the parents being autosomally dominant. The parents who are autosomal dominant have a defect in their mis- match genes which identify and repair somatic mutations in DNA during cell division. Four genes have been identified as carrying this mutation; hMSH2, hMHL1, hPMS1, and hPMS2. ( h standing for hereditary) FAP constitutes only about 0.5 % of all hereditary colorectal cancer. It is also an autosomal dominant disease.
In about 30% of the cases, there is no family history of knowledge of the disorder and the condition, hemophilia, is the result of a ‘spontaneous gene mutation’. ‘Roughly one in every 5,000 males born in the United States has hemophilia and can happen to people of all races and economic groups equally.’ (www.whatishemophilia.com) Small cuts are usually not an issue, but if a more traumatic event occurs, serious problems could arise. There are 3 different levels of hemophilia, mild, moderate and severe. People who have mild hemophilia have between 6% and 49% of the normal clotting factor. Those who suffer from moderate hemophilia have roughly 1& to 5% of the clotting factor and make up about 15% of society that suffers from hemophilia.