Symptoms And Treatment Of 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

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

Our blood is made up of several cells and plasma such as erythrocytes, red cells, that contain hemoglobin, leukocytes, known as white cells, that help the body fight the prevention of bacteria and infection, and lastly thrombocytes, platelets that aid in the formation of blood clotting by discharging various protein substances when one is injured. In addition, oxygenated blood is carried away from the heart through arteries, thick hollow tubes which are elastic, allowing them to dilate and constrict as blood is forced down. When arteries become smaller through re-branching, they become arterioles that feed capillaries. In fact, there are 3 types of capillaries, continuous, which allow small molecules to pass through, fenestrated, involving porous endothelial cells allowing small molecules and limited amounts of protein to diffuse, and discontinuous, which are the most flexible in allowing proteins and blood cells to pass through.

There are two types of Hemophilia, type A and type B, Hemophilia A is associated with blood clots after injury or a type of surgery, Hemophilia A is a disease in which a type of protein that is used to stop clotting is changed or mutated. This all starts after the bleeding has begun, little molecules send out a signal for a protein called factor 12 to be activated, then this protein goes on to activate other proteins till the protein Fibrinogen is activated which stops the bleed and forms a stable clot, but, when Hemophilia is brought in, this can cause major problems. It occurs in the factor 8 gene. Hemophilia causes this gene to be mutated, which is located on the X chromosome. The instructions for making the gene are altered which makes the protein changed as well. In a minor case only a small part of

Hemostasis is the process whereby blood coagulates at the site of an injury to a blood vessel. Cellular components involved in hemostasis include platelets, endothelial cells of blood vessels, tissue factor-bearing cells, and coagulation factors (Davoren & Wang, 2014). Coagulation factors are specialized plasma proteins that circulate in the bloodstream in inactive forms. Most coagulation factors are activated by enzymes that catalyze their conversion to active forms. The active forms then contribute to hemostasis. Factors VIII (FVIII) and IX (FIX) are the factors involved in the most common forms of hemophilia. The coagulation cascade has many steps and reciprocal interactions; however, FVIII and FIX are most involved with the following steps:

Hemophilia is a rare blood condition in which an individual’s blood cannot clot appropriately to stop bleeding. There are two types of Hemophilia, Hemophilia A and Hemophilia B. This paper will be focusing on Hemophilia A, also known as classic hemophilia. “Hemophilia A is a genetic disorder caused by a missing or defective factor VIII, a clotting protein” (National Hemophilia Foundation, n.d., para. 1). Clotting proteins work with cell fragments called platelets to stop bleeding. “When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding (National Heart, Lung, and Blood Institute, 2013, para.

Lastly hemophilia C is the rarest and occurs in 1 in 100,000 of the general population. Most people have the severe type of this disorder. Hemophilia doesn’t occur mainly to a specific race but mainly occurs in men because hemophilia is an X-linked disorder. To make a diagnosis doctors take a blood test to determine if blood is clotting correctly, if not doctors will do clotting factor tests, called factor assays to conclude the type and severity of hemophilia that the patient has. As of today there are no known cures for hemophilia yet, but there are some treatments available for the bleeding and symptoms of this mutation. The main treatment for the symptoms of hemophilia is injecting the clotting protein into the patient's vein, this is called replacement therapy, these injected proteins can be made from human blood, there is a small chance that a patient being treated with another humans blood can get an infectious disease. However to prevent getting that you can take the treatment that is not made from human blood, called recombinant clotting factors. This treatment can be easily used and stored at home and can take fifteen minutes to receive

Hemophilia is a rare disorder when blood doesn't clot normally because it is short on sufficient blood-clotting proteins. Deep bleeding inside the body is big concern especially in the knees, ankles and elbows. The internal bleeding caused from this can damage the organs and tissues of the body and may be life threating. When a person without Hemophilia is injured, a system of procedures happens to make the blood turn from liquid to solid to clot the wound and make the blood flow stop. Platelets, which are cells found in the blood, combine together to form a clot at the site of bleeding. The platelets hold an enzyme that causes fibrinogen to change to fibrin which is a solid substance that doesn’t liquefy. The fibrin goes to the area of injury

Hemophilia is an abnormal, rare disorder caused when blood does not properly clot, due to a lack of certain proteins. This disorder is genetic and is inherited from the parents of the offspring. Hemophilia does not change a humans lifestyle if it is treated correctly and the person is healthy and active. When a person bleeds, the body automatically forms a clot to stop the bleeding by sealing the blood cells together. Hemophilia occurs when blood particles do not participate in the clotting factors.

Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.

The severity is highly dependent on their plasma coagulation factor levels which pertain to which specific chromosome is involved and mutate and the mode of inheritance, whether it would be autosomal recessive, or x-linked recessive. Different coagulation factors for blood clotting have different names, for example there is one coagulation factor named factor IX and another one called factor VIII. There are many different factors a person might be deficient in; it really depends from case to case. When these factors do not work properly, hemophilia is present. Patients who exhibit mild symptoms of hemophilia tend to bleed immensely after a big event like surgery. Patients who exhibit severe symptoms of hemophilia have around twenty to thirty occurrences of excessive bleeding (Mannucci et al, 2001). Through this, we can see that the severity of hemophilia ranges from person to person. A person who spontaneously bleeds can find blood in their urine or stool, frequent nosebleeds, pain in their joints, and large bruises that appear out of nowhere (Khan,

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

Haemophilia is an inherited blood disorder in which the blood does not clot and the bleeding disorders are due to defects in the blood vessels, the coagulation mechanism, or the blood platelets. An individual who is suffering from the disorder may bleed spontaneously and doesn’t clot or may bleed for longer period as compared to normal, healthy person.

Hemophilia is caused by a variety of different things. Hemophilia is caused by clotting factors in the blood, inheriting it from family members, and acquiring it. Each type of Hemophilia has a different factor deficiency (Stachnik 220). When bleeding, the body naturally clots by bringing blood cells together (Mayo Clinic Staff 2). When blood clots, there are certain clotting factors that help (2). Hemophilia can be caused by the deficiency

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.