Classic Haemophilia

While studying eugenics, genetics plays a detrimental role in determining heredity. Genetics is the study and behavior of genes ("Genetics"). These genes are encoded pieces of information that comes from both parents, these genes are found on any of the 23 pairs chromosomes; these chromosomes that contain genes form the human genome. 22 chromosomes all contain the same genes although slight variations of alleles, alleles are alternate forms of genes, and the 23rd chromosome contains the information for the zygote's gender.

Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those

"Haemophilia A: Molecular Insights." Clinical Chemical Laboratory Medicine. U.S. National Library of Medicine, 17 Apr. 2007. Web. 29 Aug. 2015. .

According to the CDC website, Hemophilia, is a hereditary bleeding disorder which affects mostly males due to X chromosome singularity. Hemophilia is a medical condition in which the blood clotting becomes a challenge for those affected. Symptoms include spontaneous bleeding from injuries or surgery. Blood contains many proteins called clotting factors that assist in blood coagulation, however; those individuals with hemophilia have low levels of either factor VIII or factor IX. The severity of the condition is determined by the amount of factor in the blood thus the lower the amount of the factor, the higher the chances that spontaneous bleeding will occur leading to more severe health complications.

Hemophilia is a rare disorder in which your blood doesn 't clot normally because it lacks sufficient blood-clotting proteins known as clotting factors. Hemophilia is an inherited (genetic) disorder. There 's no cure yet. But with proper treatment, most people with hemophilia can maintain an active, productive lifestyle. Hemophilia was recognized, though not named, in ancient times. The Talmud, a collection of Jewish Rabbinical writings from the 2nd century AD, stated that male babies did not have to be circumcised if two brothers had already died from the procedure.

Hemophilia, once called the royal disease is a problem with the clotting of blood. When a cut or bruise occurs it can bleed causing problems with people who suffer from hemophilia. Patients with hemophilia will continually bleed longer than a normal individual. This bleeding can lead to harmful levels of blood loss to internal bleeding. Hemophilia is very rare occurring once every five thousand people. Rare, however it is the most common x linked trait. When an injury occurs, blood cells called platelets plug the wound. Then fibrins seal it up. Hemophilia splits into two groups hemophilia A and hemophilia B. People who have hemophilia A have low levels of blood clotting factor 8. Hemophilia B patients have low levels of blood clotting factor

A large number of mutations for Hemophilia A have been detected and identified. The most common mutation found is the intron twenty-two inversion and intron one inversion of the Factor VIII gene. This mutation occurs in 40-50 percent of people with Hemophilia A. It is caused by the homologous recombination between copies of a DNA sequence. One copy is located on the intron 22 region of factor VIII and the other copies are distal to the factor VIII. Intron one of the factor VIII gene occurs when the factor VIII gene is split which results in the production of two chimeric mRNAs. One of the mRNA has have the exon of the factor VIII and the exons 2-6 on the exon gene of the VBP1 gene, which codes for the subunit of prefolding. The second mRNA has all exons except the last exon of the BRCC3 gene. Other patients that have Hemophilia A acquire the

First described by Babylonian Jews more than 1700 years ago (NCBI, 2011), hemophilia A has been considered a very interesting genetic disease ever since. In addition, hemophilia A gained widespread attention after Queen Victoria transmitted the disease to several royal families in Europe (NCBI, 2011). As scientists gain more knowledge regarding this genetic disease, more effective treatments have emerged as a result.

What is a genetic disorder? Scientifically speaking it is defined as a permanent alteration in the DNA sequence that makes up a gene. This alteration could be as small as the addition or deletion of a single base pair or large enough to cover multiple genes.

     Hemophilia is the oldest know, lifelong bleeding disorder(“Hemophilia”2004). It is named for two inherited diseases in which the blood does not clot normally. Several different plasma proteins must be present for blood to clot property. If one of the plasma proteins is missing, or present at low levels, blood clots very slowly(“Hemophilia” The Marshall Cavendish). The two most common types of hemophilia are: Hemophilia A or FactorVIII(8) deficiency and Hemophilia B of FactorIX(9) deficiency(“Hemophilia” 2002). People with Hemophilia A have low levels of one kind of blood clotting protein and people with Hemophilia B have low levels of another kind(“Hemophilia” The new book).

Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.

Franchini and Manucci describe hemophilia as a well-known genetic disease that causes excessive bleeding. Hemophilia A and B are transmitted in the same ways and are extremely similar, the largest differences being that they are caused by mutations in different genes that cause a deficiency of that gene; specifically factors

Have you ever wondered about diseases? Today’s disease is called Hemophilia. Hemophilia has many symptoms, problems, and medical treatments. Hemophilia was discovered by Dr. Judith Pool. Hemophilia is a rare disease. It prevents cuts and wounds from getting clotted properly. “The platelets are not sticky enough for the wound to be sealed”. This disease usually leads to lots of blood loss. There is no cure, but there are treatments. “There are two types of Hemophilia, Hemophilia A and Hemophilia B one being rarer than the other.” “The way you get Hemophilia is if your parents had it and you inherited it”. Hemophilia is called the “Royal Disease” it dates back to 1800’s when Queen Victoria was queen. She then passed the disease to her daughters. “When the daughters decided to get married and have children they then passed the disease to their children and husband which then spread like crazy.” Which today it is known as hemophilia.

Throughout the progression of its identification it has been known as the royal disease due to its prominence among the descendants of Queen Victoria (1819-1901) as she was a carrier for the gene and the beginning of hemophilia notable X-linked recessive presence in Europe. The distinction of the royal diseases presence in Europe was due to the inbreeding between royal members in order to maintain strategic diplomacy. The term hemophilia itself was finally coined by Hopff in 1828 at the University of Zurich after being discovered and described by Dr. John Conrad Otto in 1803.

Hemophilia is a problem with the blood in a person that causes them to bleed not any faster than normal, but they often bleed for a longer period. Their blood is missing the clotting factor (a protein in the bloodstream that works to control bleeding). Hemophilia is quite rare; roughly 1 in every 10,000 persons are born with it. Rarely, hemophilia can be an acquired disease which just means a person is not born with it, but will develop it during their lifetime. This rarity occurs when a person's immune system forms antibodies that attack the clotting factor in the blood. The entire antibody population fights against the blood to prevent the clotting factors from working properly.