Classic Haemophilia

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 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

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

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.

Haemophilia is a genetic disorder that is passed through generations on the x chromosomes, that affects the clotting factor in the blood and makes patients more prone to spontaneous and injury-resulted bleeding which is usually internal. According to the Haemophilia Foundation Australia (2015), there are over 3,000 cases of haemophilia in Australia, and more than half the cases are in males. The National Haemophilia Foundation (2013) website shows that cases of haemophilia go back to the 2n d century, where Jewish boys who have records of uncontrollable bleeding leading to death in their family do not have to undergo circumcision, also cases in 10th century Arabia show deaths of males after uncontrollable bleeding due to trauma. The first

However there are 30% of cases are resulted from spontaneous mutation without any family history. Factor VIII deficiency (Haemophilia A) is the commonest type while incidence of Factor IX deficiency (Haemophilia B/ Christmas disease) is one fifth of it. Haemophilia is classified into 3 categories depending on the percentage of coagulation factor activity: severe (< 1%), moderate (2-5%) and mild (5-30%). Moderate and severe haemophilia has significant clinical manifestation as the patients have spontaneous bleeding especially into joint and

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

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.

&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;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.

“Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn 't clot normally.” (NIH, 2013) Hemophilia is a chromosome – linked bleeding disorder caused by

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.

Within the nucleus, chromosomes containing genetic information form. Each chromosome contains strands of DNA. Shorter sections of the DNA are called genes. Humans have 46 chromosomes or 23 pairs, which are used to create a child from the parent’s chromosomes. 23 from the mother and 23 from the father are shared. The chromosomes occur in pairs, which have the same shape and size, though they will vary from the other chromosomes attained. Within each pair, one from the mother and the other from the father. The chromosomes carry genes, which cater for a particular feature; therefore, we have two genes fore every single characteristic within our body. If both of the genes attained are the same, then it is considered a dominant gene. Whereas, if

The 12th of August 1904 was a great event for the Romanov family, who were the last ruling dynasty of the Russian Empire – it was the birth of their long-awaited son Tsarevich Alexis, the successor to the Russian throne. Unfortunately, the sole heir was seriously ill with an incurable disease called hemophilia. Hemophilia is an inherited disease characterized by the inability to form blood clots properly. In other words, any minor cuts might be almost fatal for people, who suffer from this disease. The condition is passed on to males through females, who do not manifest the symptoms of the disease themselves. The Tsarevich Alexis inherited hemophilia from his mother, the tsarina Alexandra Feodorovna, who was the granddaughter of Queen Victoria.

Opening Paragraph: Being quite a rare disorder throughout the world, hemophilia is an inherited, genetic bleeding disorder with less than 20,000 being affected in the US. It takes a longer time for bleeding injuries to stop than normal people. Small cuts are not much of a problem, but the ones more severe need medical help.