Hemophilia is a rare genetic blood disease characterized by the inability or impairment of blood to clot or coagulate when a blood vessel is broken. This inherited disease is caused by an insufficiency of blood proteins, known as factors, which participate in blood clotting often by sudden gene mutation. Hemophilia can be characterized into three distinct types, including Hemophilia A, Hemophilia B, and Hemophilia C. Biologically, hemophilia is a unique genetic disorder that As a recessive sex-linked disorder, hemophilia is more likely to occur in males than in females. This is explained by females having two X chromosomes, while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. As a result of females having two X chromosomes in their genetic makeup and hemophilia being rare, the chance of a female having two defective copies of the gene is very remote. Females are almost exclusively asymptomatic carriers of the disorder, meaning that they display no symptoms of hemophilia, but have the ability to carry the disease to their offspring. A mother whom is an asymptomatic carrier of hemophilia has a 50% chance of passing the faulty X chromosome to her daughter, and an affected father will always pass down the defective gene to his daughters (a son cannot inherit the defective gene from his father). The pattern of inheritance of hemophilia can be described as a criss-cross type, which is also seen in color blindness (another genetic disorder). With all genetic disorders, including hemophilia, it is possible for a human to acquire it spontaneously as a result of gene mutation, which is defined as a change of the nucleotide sequence in the genome of an organism. Mutations that result in hemo... ... middle of paper ... ...The historical scientific discoveries surrounding hemophilia largely contribute to modern understandings and treatment of the disease. Hemophilia was also historically coined the ‘royal disease’ due to its prominence in European royalty. Queen Victoria of England (r. 1837-1901) passed down the mutation of Hemophilia B to her son Leopold, and through several of her daughters, the gene mutation was passed to various royals across the continent. The influence of hemophilia eventually spread to royal families in Spain, Germany, and Russia. In Russia, Tsar Nicholas II (r. 1894-1917) had a hemophiliac son that claimed to be treated by the controversial figure and friend of the royal family, Grigori Rasputin. The possession of hemophilia in European royalty suggests that this genetic disorder can affect any human, their ethnicity and social status being irrelevant.
The mindset of every living organism is to survive and reproduce. As such, it may be surprising to hear that diseases actually plays a crucial role in the survival of our predecessors. In the book Survival of the Sickest, Dr. Sharon Moalem discusses the role these hereditary disorders played in keeping our very ancestors alive. Three examples mentioned in the reading selection include hemochromatosis, diabetes, as well as favism. All the diseases I mentioned had a specific aspect, to which I found particularly appealing. In the case of hemochromatosis, I found it intriguing how the author used his own life to draw a connection between the two traits. Dr. Sharon Moalem lost his grandfather to hemochromatosis and later was diagnosed with the
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov)
Rasputin’s loyalty to the czar and his family made him “immune” to the attempts of exile from Russia (DISCovering). Aleksey Nickolayevich was a hemophiliac (Rasputin). On one certain occasion, doctors were called in to check on the young heir. After nothing seemed to help, “Grigory Rasputin, who was reported to have miraculous powers of faith healing, was brought to Alexandra” (Massie 259). Rasputin didn’t cure Aleksey of hemophilia, but his ability to control the symptoms was “indisputable” (Fuhrmann 26). “In December 1916, a group of conservative aristocrats laced Rasputin’s wine with potassium cyanide at a soiree in the Yousoupov Palace” (DISCovering). The poison wasn’t strong enough to kill Rasputin. He was shot once, “lurched” at his attackers and they shot him again (DISCovering).
Hemophilia later developed a reputation as the "royal disease" because it passed from Queen Victoria of England to her descendants throughout the royal houses of Europe. About eighty percent of all cases of hemophilia have an identifiable family history of the disease; in other instances, it may be attributable to a spontaneous mutation. Researchers recently discovered that the spontaneous mutation of the factor VIII gene in two children was due to the attachment of a foreign "jumping gene" that disrupted the blood-clotting ability of the factor VIII gene. Inheritance is controlled by a recessive sex-linked factor carried by the mother on the X chromosome. A probability of one in two exists that each boy born to a normal male and a carrier female will be hemophiliac and the same chance that each girl of this union will be a carrier.
Throughout Russian history, there were many individuals who captured the interests and curiosity of scholars both domestic and foreign, but one stands out as the most ambiguous. Grigori Yefimovitch Rasputin, the so- called "Mad Monk" or "Siberian Mystic Healer", has gained notoriety throughout the world for his astounding medical feats involving the stopping of the sometimes never ending bleeding of hemophiliacs. In the time of Rasputin, 1864-1916, there were no effective medical means to stop the bleeding that plagued hemophiliacs, yet the mystical powers of one man had the power to do so. Since there were no written records compiled at the time to account for his legacy, the stories of Rasputin have been passed along throughout time by believers and skeptics alike.
Color Blindness is caused by the X chromosome. The chromosome comes from the mother and has a 50% chance of being passed to her son. A daughter of the same mother will also have a 50% chance of also being a carrier, and is only at risk of being colorblind if the father is colorblind. But each color blindness has its own effect on who gets the color blindness and who will be a carrier. For instance the Blue-Green color blindness color blindness is caused becauses of the X chromosome which it’s carrier is the mother. On the women they don't have to be colorblind to be a carrier, becauses a women needs two defective chromosome, the X chromosome is affected this symptoms is call...
For someone with Hemophilia, a bleeding disorder, this process does not work as it should. In a person with Hemophilia, the eighth or ninth protein in the clotting cascade is either missing or at very low levels in the
Hemophilia, because it can only be inherited. If there would be any cause it would be that you bleed. Symptoms of this disorder is that if you get a minor cut or scrape your knee, you will bleed uncontrollably. Kristy Dobson, who says she has Hemophilia, claims that if you injure your head in any way, there will be a major effect.
Hemophilia is a genetic disorder that causes a person’s blood not to clot. This causes bleeding to continue without being stopped by blood clotting. The big issue of the disorder is when the person experiences internal bleeding, but only in some cases does this occur. There are different levels and types of hemophilia, but the main problem of blood not clotting is always present. Although a person can be treated so that they can live active, hemophilia may last for the person’s whole life.
The cause of Hemophilia are many thing but there is one main part. It is a genetic disorder that
Thalassemia is a blood disorder transferred through families. It occurs when the body makes less hemoglobin than needed or an unusual form of hemoglobin. Hemoglobin is the protein in red blood cells that carry oxygen. The disorder makes an excessive amount of destruction of red blood cells. This eventually leads to anemia.
Did you know that hemophilia A is mostly common to men and happens to about 1 in 5,000-10,000 men at birth ? Hemophilia is a bleeding disorder with many hardships of their life.
Males receive X from the mother, Y from the father whereas females receives two Xs, one from each parent. Hemophilia is an X-linked or sex-linked recessive disorder where the faulty gene is located on the X chromosome. Therefore, the son inherits the defective gene from the mother and is likely to have the disease. Since the daughter inherits two Xs, it is not very likely for her to show the trait since the disorder is recessive but they will still be the carrier of hemophilia gene. In rare cases, some carriers can experience bleeding symptoms if their clotting factors are moderately decreased. In unusual situations, some people can develop hemophilia later in life which can be resolved through treatments. The affect group involves middle-aged or elderly people, or young women who have recently given birth or are in the later stages of
Hemophilia is a disease with a sex-linked pattern of inheritance. It is carried on the X chromosome and is inherited repressively. Males inherit one x chromosome from their mother and a y chromosome from their father. In the case of females, one x from mom and the other from their father. If a son inherits an x chromosome that carries hemophilia from his mother,
Hemophilia patients genetically lack two main coagulation factors, called factor eight (VIII) and nine (IX). Two experts in the hemophilia field, Dr. Hartmann and Dr. Croteau, note current ways to manage the disease can come from factor VIII and factor IX protein replacement through injections (2016). Scientists have debated this method of treatment, although it is the most common, because the proteins have been reported to decrease in their effects over time. It has been proven that “25% of the patients develop inhibitory antibodies to factor VIII following repeated infusions” (Miao, 2016). Over time,