Factor VIII Hemophilia A: A Genetic Disease

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

Haemophilia is an inherited blood clotting disorder where the blood doesn’t clot properly because there isn’t enough clotting factor VIII or IX in the blood of someone who is affected by haemophilia (ref). There are two types of haemophilia. The most common form, Haemophilia A, or Classic Haemophilia, affects people who are deficient in factor VIII and Haemophilia B, or Christmas Disease, affects people who are deficient in factor IX. Haemophilia can also be referred to as ‘the royal disease’ because it affected royal families in England, Germany, Russia and Spain in the 19th and 20th centuries. Queen Victoria from the English royal family is believed to have carried the altered gene of haemophilia having a factor XI deficiency. In Australia there are approximately 3000 people affect by haemophilia and majority of them are males, with severe haemophilia extremely rare in females, but some females do have lower factor levels and bleeding symptoms. Abnormal bleedings had first been recorded hundreds of years ago, but wasn’t announced publicly until 1803 when a physician from Philadelphia, John Conrad Otto, published an article about a hemorrhagic bleeding disorder that affect mainly males.

In general, such carrier females do not bleed excessively, as their other X chromosome, with a gene for normal FVIII (or FIX) production, results in intermediate levels of FVIII (or FIX). However, carrier females have a fifty-fifty chance of passing their X chromosome that bears the hemophilia gene to each child they might have. A son would have an equal chance of being normal or having hemophilia. A girl would have an equal chance of being normal or being a carrier, like her

Hemophilia is classified in three different types, Hemophilia A, Hemophilia B, and Hemophilia C. Hemophilia A is the most common type of Hemophilia and is caused by the clotting factor VIII. The second most common type is Hemophilia B, caused

Hemophilia is inherited in an X-linked recessive pattern. A condition is considered X-linked when gene mutation that causes it is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is enough to cause the condition. Since females have two X chromosomes, a mutation must be present in both copies of the gene to cause the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Literature suggests that approximately 1 in 5,000 males are born with Haemophilia A and 1 in 30,000 males are born with Haemophilia B.

The inherited disease Hemophilia A is due to deficiency of Factor VIII – This is most common – i.e. 80% in all cases. Hemophilia B is due to deficiency of Factor IX . It is also called Chrismas Disease and is less common.

Hemophilia is the name of a group of hereditary blood disorders that doesn’t allow the blood to clot normally (Frey 2009). More specifically hemophilia A, also known as factor VIII, is caused by a missing clotting protein coagulation factor VIII. It is often times referred to as the “Royal Disease” because of how it ran rampant through the royal families of England, Spain , Germany, and other European countries during the 19th and 20th century. Hemophilia A is inherited in X-linked recessive pattern. In males (who have only one X chromosome), one copy of the affected gene is enough to cause the condition. In females (who have two X chromosomes), a mutation on both of the genes would have to be present to cause the disorder. Because it is very unlikely that a female would have both altered copies on both of the genes females generally don’t get hemophilia. Since fathers can only pass on the Y chromosomes to their sons they can’t pass X-linked traits along (Hemophilia 2015). Hemophilia is linked to the mutation of the F8, on the X chromosome, as seen in Figure 1. Mutations in the F8 gene can cause faulty versions of the coagulation protein, therefore this protein cannot participate in the clotting process (Gersten 2014).

If a person experiences levels below 50% they will not be able to form a healthy blood clot. People with Mild hemophilia A are only able to form 6% to 49% of the FVIII needed to produce a blood clot. Mild hemophilia results in people experiencing bleeding only after a serious injury or a surgery that results in bleeding. Usually, mild hemophilia will not be diagnosed until an injury or procedure involving prolonged bleeding occurs. In women, mild hemophilia can formulate heavier menstrual cycles and can also create hemorrhages after childbirth. People with moderate hemophilia A are only able to produce 1% to 5% FVIII in their blood. Patients with this tend to experience bleeding after serious or moderate injuries, surgeries, or they can have spontaneous bleeding episodes. Patients with severe hemophilia A are only able to produce 1% or less of the FVIII needed to be considered healthy. Any experiences following an injury will experience bleeding and will frequently experience bleeding, often into their joints and

A hemophiliac’s extent of bleeding will depend on the severity of their hemophilia. One symptom of hemophilia is excessive bleeding. Bleeding is external and internal. According to the National Heart, Lung, and Blood Institute of the Institute of Health, “Signs of external bleeding may include: bleeding in the mouth from a cut or bite or from cutting or losing a tooth; nosebleeds for no obvious reason; heavy bleeding from a minor cut; bleeding from a cut that resumes after stopping for a short time”. They also say, “Signs of internal bleeding may include: blood in the urine (from bleeding in the kidneys or bladder); blood in the stool (from bleeding in the intestines or stomach); large bruises (from bleeding into the large muscles of the body”. Another thing this disease does to the body is it causes bleeding in the joints. This is another form of internal bleeding. Some joints included are the knees and elbows. The process of bleeding in the joints goes as follows; the joints are tight, but with no pain or visible signs of bleeding. Then, the joint becomes swollen, hot to the touch, and it is painful to bend. Bleeding and swelling both continue. Movement in the joint becomes temporarily lost. The pain can be severe. If this is not treated quickly, then the joint may be damaged. More internal bleeding includes bleeding in the brain. This is, as imagined, a very serious complication. It can

Hemophilia A and Hemophilia B are inherited bleeding conditions where the blood does not properly coagulate (Center for Disease Control and Prevention 2014)2. The inheritance of hemophilia progresses through a carrying of the gene inflicted and is passed on via mother to child at the time of conception. X and Y chromosomes are distinguished as being the sex hormones of the human body. Hemophilia-A in a sex-linked recessive trait disorder located on the X chromosome and otherwise absent on the Y chromosome. Being that it is located only on the X chromosome, if a son is conceived carrying the gene the disorder will inevitably develop. While in the case of females, for the disease to manifest the carrier for the gene must be on both X chromosomes which is noted to be more. Though most hemophilia diagnosis are associated with males, the chance for the inheritance

Hemophilia is a bleeding disorder where the blood doesn’t clot normally. Some symptoms of hemophilia are unexplained bleeding from cuts or injuries, large deep bruises, unusual bleeding after vaccination, pain, swelling in your joints, nosebleeds without a known cause, and blood in your urine. These symptoms vary depending on the level of clotting factors. Hemophilia are inherited in an X-linked recessive pattern. The genes that are associated with these conditions are located on the X chromosome which is one of the two sex chromosomes. It's more likely males will get this disease because males only have one X chromosome but females have two X chromosomes and for them to carry hemophilia they must get it on both chromosomes.

Hemophilia, also known as haemophilia, is one of the most common genetic disorders in which people’s blood clotting does not occur normally. Instead, excessive bleeding occurs in people diagnosed with hemophilia. According to WebMD, a person diagnosed with hemophilia may have “lots of blood loss from small cuts,” and they can also have joint damage. Also, bleeding can occur randomly, which is known as “spontaneous bleeding.” This sex-linked disease occurs more often in males, and is caused by a deficiency or an absence of a protein produced to manage blood clots, in which in this disease, it it either clotting factors VIII, IX, or the rare XI. Several types of

There are three different types of this disorder each having its own range of severity. The first and most common type of Haemophilia is type A, this type is usually caused by a missing or defective VIII protein. Haemophilia is present in around 1 in every 5000 males. The range of severity in type A ranges from mild to severe. Mild cases are the most common, it is generally only discovered when the afflicted gains a severe enough injury, when having tooth extractions or other surgeries and in many cases the afflicted does not realise until adulthood or even at all. In the rare cases of a female haemophiliac, mild type A can sometimes cause a heavier menstrual cycle, and haemorrhaging during childbirth. The next level of severity is moderate;

Hemophilia, also spelled haemophilia, it is a genetic disease, patient lack of coagulation factors inborn, so the function of blood coagulation is impedimental, also it is not easy to stop the bleeding. Normal blood clotting is made of blood platelet and a part of plasma protein. The function that related to plasma protein of coagulation is coagulation factors. The patient’s blood coagulation factors is less than normal people. When the blood vessel burst, blood is not easy to curdle, so it is difficult to stop the bleeding. Since the patient lack of some coagulation factors, When the blood vessel burst, it’s more difficult to coagulate than normal people, so they will lose more blood.