Haemophilia A: A Genetic Analysis

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

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.

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

Each treatment should be treated case-by-case to ensure that the patient is receiving the best possible care. Suggested treatments consist of regular infusions of DDAVP and/or clotting factor, first aid for minor cuts, physical therapy, fibrin sealants and clot-preserving medications. For Hemophilia C, clotting factor XI is available only in Europe and in the United States bleeding episodes are treated through plasma infusions. Clotting factor XI is not available in the United States because Factor XI concentrates are blood products with a concentrated form of Factor XI. Meanwhile, available only in certain areas of Europe, these blood concentrates are made through a series combining thousands of different blood donors. Therefore, the United States only keeps frozen plasma instead. Fibrin sealants work by applying the medication directly to the site of the wound, from there the Fibrin promotes clotting and healing. Clot-preserving medications can also be applied directly to the wound. However, this time the medication preserves the clot from breaking down and assists in ending the

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 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.

You mentioned hemophilia so I just wanted to explain what it was. Hemophilia is an inherited disease that affects the clotting process of your blood. Therefore, if you have hemophilia you do stand a chance of sever bleeding if you incur an injury or cut. There is a protein that is called clotting factor that a person might have little or none at all. It is a protein used for blood clotting that helps blood platelets stick together. (NIH

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 A is the most common clotting disorder which “…accounts for approximately 85% of… [Hemophilia cases].” (Copstead-Kirkhorn, 2012, pp. 304) The cause for this clotting disorder is the deficiency of clotting factor VIII. With this factor lacking, a patient can experience abnormal bleeding accompanied by a prolonged clotting time. This disorder is also classified as X-Linked recessive. Thus, if the father has Hemophilia A and the mother does not, there is a 50% chance that the sons will have the disorder and 50% chance that the daughters will be a carrier of the disorder. It only takes one infected X chromosome to spread

This is because this allele can arise simply from mutations. It does not necessarily need to be an allele that is already floating around in the family lineage. However, once the mutation in the hemophilia gene is present, the chance of passing it on exists (HoG Handbook). It is possible, however, for the recessive allele for blood clotting to disappear from the family tree as well (HoG Handbook). This is possible if all of the family members who have hemophilia or who carry the hemophilia gene give birth to children who by chance do not inherit the gene (HoG Handbook). As far as the level of severity goes, the clotting factor level will be about the same from one generation to the next. For example, a son who inherited the recessive allele from his mother will typically have the same severity level as his mother, if she also has the disease or is a carrier of the disease. Another example is that the daughter of a man who is infected with a mild recessive allele will typically carry the allele for mild hemophilia as well. According to Hemophilia of Georgia, parents’ children will all carry the same level of severity for hemophilia (HoG Handbook). This will usually be the case, unless of course another mutation happens upon the existing mutation causing a difference in severity from the parent in comparison to the

Then in the 1960s life expectancy for someone who has hemophilia is 20 because in the hospitals, fresh and frozen plasma were transfused into patients. But, each bag of plasma does not contain much of the necessary clotting factor that huge volumes of them had to be administered. So many children had severe joint bleeds which could be fatal. Later by the mid-1980s it was confirmed that HIV and AIDS could be transmitted by blood so half of the people with hemophilia became infected and thousands of people

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.

Signs and symptoms differ, varying with the kind of severity a patient has. Episodic bleeding is the most prominent symptom. Patients with mild severity usually only experience uncontrollable bleeding after physical trauma or surgery. Individuals with severe hemophilia suffer from frequent and sometimes spontaneous bleeds, ranging from nosebleeds to deep internal bleeding. This must treated immediately due to the possibility of permanent tissue damage or deformity of joints. Other symptoms individuals may experience are extreme fatigue, double vision, low blood pressure, blood in urine and stool, swelling of the joints, along with much more.