Research Paper On Hemophilia

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

As the best of my knowledge I believe the two year old child is suffering from an inherited disorder called hemophilia. The Mayo Clinic describes hemophilia as a rare blood disorder that lacks sufficient blood clotting proteins. (Staff, B.M. ((n.d.)). Hemophilia. Retrieved September 27, 2016, from http://www.mayoclinic.org/disease-conditions/hemophilia/basics/treatment/con-20029824

The genetic disorder of Hemophilia is where the clotting factors of the blood are absent or deficient, causing it to be a dangerous disorder to the people who have it. This disorder is where the people who have it will bleed easily and accessibly. Different types of hemophilia are classified by different deficient clotting factors in the blood. Treatments for hemophilia are available, including transfusions of frozen

Hemophilia A is an X-linked disorder caused by a deficient or defective clotting factor VIII (FVIII) protein, and characterized by spontaneous or traumatic bleeding into joints and muscles [Ragni]. It causes afflicted individuals to not be able to coagulate their blood very efficiently or at all when getting an injury in which blood is exposed either internally or externally. This disease can be very dangerous and fatal because major blood loss can occur if the patient has not received treatment.

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 genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. Two of the most common forms of hemophilia are A and B. In persons with hemophilia A (also called classic hemophilia), clotting factor VIII is not present in sufficient amounts or is absent. In persons with hemophilia B (also called Christmas disease), clotting factor IX is not present in sufficient amounts or is absent. People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time.

Mutations lead to a genetic deficiency in clotting factor VIII, causing increased bleeding and affects males a majority of the time. HA can occur in homozygous females. 5-10% of patients with HA have dysfunctional proteins (factor VII) and 90% to 95% of HA cases are characterized by a quantitative deficiency pf factor VII. Patients usually experience bleeding episodes: the most serious bleeding sites include, joints, muscles, digestive tract, and brain. 30% of cases are caused by new mutations. Medications are prescribed to prevent bleeding episodes and for more severe cases blood coagulate and blood plasma treatments are

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

Hemophilia A is distinguished by extreme bleeding into soft tissues of the body known as hematoma, and bleeding into joint spaces known as hemarthroses. Hemarthroses lead to severe condition known as hemarthropathy. Repeated episodes of hemarthroses are very common to this disease. The severity of hemophilia A symptoms is directly proportional to factor VIII blood level and is classified as mild, moderate and severe.

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.

He cut his small toe when he was one year old. There was unusual bleeding. He was given a blood transfusion at a local hospital. He started bleeding frequently from different sites such as, his gums, nose and ears. At the age of four, he bled from his forehead and hip after a fall. He was tested at Christian Medical College Hospital, Vellore and he was diagnosed as having Type ‘A’ Hemophilia with severity at less than 1 %.

Hemophilia A is a sex linked genetic disease that is a common coagulation disorder (Molecular Genetics of Hemophilia A). It causes infected individuals to not be able to coagulate their blood very efficiently or at all when getting a cut or an injury in which blood is exposed. This disease can be very dangerous and fatal because major blood loss can occur if the patient is not treated.

The signs and symptoms of hemophilia vary based on the level of the clotting factors. If there is a mild level of clotting factor, the bleeding occurs after a trauma or surgery. In a severe case, the patient may suffer from spontaneous bleeding (mayo clinic). When there is a severe case of hemophilia, there will be frequent bleeding into the joints , a small blow to the head may result in bleeding inside the skull and brain and injury to the mouth may result in crushing of the airways. Below are some of the common symptoms of hemophilia:

Haemophilia is an inherited condition that affects the blood’s ability to clot. People with this condition experience prolonged bleeding following an injury

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.