Hemophilia: Genetic disorders have been passed from mother to son
Hemophilia is a blood disorder that prevents the blood from clotting properly, leading to uncontrolled bleeding. It is actually a collection of many different genetic disorders transmitted by inheritance. The two most basic types are hemophilia A and hemophilia B
Hemophilia usually affects men. In fact, one in 5,000 men gives birth to hemophilia A. About 20,000 Americans were born with a genetic disorder that caused the disease. There are an estimated 400,000 people worldwide with some type of hemophilia.
Heredity and hemophilia
Hemophilia is a genetic disorder caused by mutations in a single recessive gene on the X chromosome. Hemophilia is rare in women with these types of genetic disorders, but the disorders can also be passed on to their sons.
Because hemophilia X is a disease associated with X, the hereditary nature of the disease is a complex issue. In addition, a wide range of genetic disorders cause hemophilia, and many mutations are found only in specific inheritance groups. More information about the role of inheritance in hemophilia can be found on the hemophilia genetics page on this website.
Types of hemophilia
There are two main types of hemophilia. Hemophilia A is responsible for eighty percent of all cases. The genetic disorders are responsible for hemophilia A result in low levels or abnormal production of the coagulation protein factor VIII (FVIII). Hemophilia B, the second most common form of hemophilia, affects factor IX proteins (FIX) and accounts for nearly twenty percent of cases of hemophilia.
Genetics of hemophilia: Defects in anticoagulants
Genetics of hemophilia Hemophilia is a genetic disease: mutations on chromosome X result in low levels of coagulation factors in VIII. Or the IX. Mutations that cause low coagulation factor progress recessively on the X chromosome. Because women have two X chromosomes (XX), the mutated gene must be present on both chromosomes to trigger the disease, and this is extremely rare.
Because men have only one X chromosome (XY), one copy of the mutated hemophilia gene is enough to trigger the disease, so men who inherit the gene touch.
Hemophilia and families
The hemophilia gene runs in families; this is passed on by the parents to their children. While women who own the hemophilia gene usually do not suffer from clotting factor problems, they carry the gene, which can then be passed on to the next generation. The chances of an individual developing hemophilia can be determined using the table below:
Although coagulation factor difficulties are important in family history, it should also be noted that one-third of cases of hemophilia A do not have a family history. In these cases, it is assumed that the cause of the spontaneous genetic mutation.
Genetic testing and counseling
Children with a family history of hemophilia may undergo genetic counseling. Genetic counseling can help couples determine if a child was born with hemophilia or if the gene is portable. Genetic counseling may include genetic testing and prenatal screening. If genetic tests show that hemophilia is likely to spread to children, prenatal counseling is available to weigh all the risks.
Genetic testing and diagnosis
Hemophilia A and hemophilia B have the same symptoms, although the two disorders affect different coagulation factors. Genetic testing is the only way to distinguish between the two disorders.
Other genetic mutations and hemophilia
Although hemophilia A and B are common, genetic tests may reveal other types of the disease. A blood clotting disorder called Von Willebrand’s disease is diagnosed and easier to treat than hemophilia.
Genetic testing may also reveal other, less common, clotting disorders, such as those that affect the following blood clotting factors:
- coagulation factor
- coagulation factor VII
- coagulation factor X
- coagulation factor XI
- coagulation factor XIII.
Hemophilia causes bruising, mild or severe bleeding.
The main symptom of hemophilia is bleeding. Defects in blood clotting factors result in low fibrin levels, which impairs the body’s ability to form strong blood clots.
Bleeding, bruising and other symptoms of hemophilia
Extensive bleeding and bruising are common symptoms of hemophilia. Contrary to popular belief, hemophilia does not accelerate people. Instead, the bleeding lasts longer than usual because the body is unable to form a blood clot.
Symptoms of hemophilia may include:
- slight injury
- sudden bleeding
- bleeding of muscles and muscles
- bleeding into the gastrointestinal tract
- urinary bleeding
- blood in the stool
- blood in the urine
- long bleeding after trauma
- prolonged bleeding after surgery or dental work
- frequent nosebleeds
- intracranial hemorrhage.
Hemophilia level: Mild and severe
Symptoms of hemophilia are mild, moderate, or severe, depending on the number of clotting factors. Mild hemophilia occurs when clotting factor levels are between six and thirty percent of normal levels. People with moderate hemophilia have normal coagulation factor levels between one and five percent. Cases of severe hemophilia have extremely low blood-clotting factors, less than one percent.
Symptoms depend on the severity of hemophilia:
Mild hemophilia: Symptoms should only be a concern if surgery or dental work is required.
Moderate hemophilia: Symptoms include mild bruising and bleeding. Otherwise, mild wear (brushing your teeth, scratching insect bites) can cause bruising or bleeding.
Extreme hemophilia: Spontaneous joint bleeding can cause serious agony and physical deformation as ligament and surrounding bones are harmed. In addition, gastrointestinal, urinary, or intracranial hemorrhage may occur and require immediate medical attention. Even mild bodily injury to the head can result in intracranial hemorrhage, which is a very serious condition.
Physical symptoms and diagnosis
Symptoms of hemophilia are often not detectable at birth unless the disorder is severe. Moderate symptoms of hemophilia can only be noticed until the child begins to crawl when unusual bleeding and bruising become more apparent. A mild case of hemophilia may go unnoticed until dental work, surgery, or serious injury results in unusual bleeding.
Complications of hemophilia
Good dental hygiene, avoiding aspirin and other NSAIDs
In addition to bleeding, hemophiliac patients also need to be monitored for a number of health complications. Medications should be carefully monitored; taking aspirin, NSAIDs, and other blood-thinning medications can have serious consequences.
Dental hygiene must be carefully maintained. Finally, patients with hemophilia requiring transfusions of blood products have an increased risk of viral infection from infected plasma, although this is less of a problem today than in the past.
Hepatitis C and HIV
During the 1980s, hemophilia was treated by replacing low levels of clotting factors with blood pooled from thousands of donors. This strategy, while an effective treatment for hemophilia, poses serious safety concerns. Viral agents, particularly hepatitis C and HIV, have been transmitted via pooled plasma to patients with hemophilia. By the time the health risk was discovered, nearly seventy percent of people treated with pooled plasma was infected with HIV.
The rate of hepatitis C infection was even higher: almost 100% of people treated with pooled plasma hemophilia were infected with hepatitis C in the 1980s.
New viral inactivation systems have provided a much safer treatment for pooled plasma for hemophilia than in the 1980s. The addition of new recombinant hemophilia treatments has further reduced the chances of HIV and hepatitis C infections, as recombinant treatments do not pose a risk of virus transmission.
Hemophilia, hepatitis C and liver
Patients with hemophilia infected with hepatitis C have a higher-than-average chance of developing cirrhosis and liver cancer. In fact, infection with hepatitis C increases the risk of liver cirrhosis by thirty times. Both cirrhoses of the liver and hepatitis C have been linked to an increased risk of developing liver cancer. For more information about the relationship between hepatitis C and cirrhosis of the liver, visit: Learn more about cirrhosis.
Kaposi’s sarcoma and non-Hodgkin’s lymphoma
Many patients with hemophilia also contracted HIV through infected blood products. HIV infection increases the risk of many potential health complications. People with hemophilia and HIV are at higher risk for Kaposi’s sarcoma (a cancer of the blood vessels and connective tissue) and non-Hodgkin’s lymphoma.
NSAIDs, aspirin and blood thinners
Patients with hemophilia should take all medications with their doctor, including over-the-counter painkillers. Conventional painkillers such as aspirin and NSAIDs (non-steroidal anti-inflammatory drugs) thin the blood, making it harder for blood clots to form. Common nonsteroidal anti-inflammatory drugs and blood-thinning analgesics include aspirin, ibuprofen, naproxen, and ketoprofen. NSAIDs and aspirin come in many forms: it is important that you talk to your doctor before taking any medication.
In addition to NSAIDs and aspirin, patients with hemophilia should avoid other medications that are specifically designed to thin the blood. There are several such drugs: heparin and warfarin are the most common.
Proper dental hygiene is essential for patients with hemophilia. Regular brushing, flossing and other dental hygiene practices reduce the need for dentures or other dental surgery. Dental surgery increases the chances of excessive bleeding, including bleeding at the bottom of the tongue, which is a life-threatening condition that causes the airways to constrict. Dental hygiene advice includes brushing your teeth after every meal, flossing and regular dental check-ups.
Chronic joint bleeding
Severe hemophilia can cause spontaneous bleeding in the joints and muscles, sometimes twice a week. Joint and muscle hemorrhage causes intense pain and can lead to loss of joint function. Swollen limbs may feel numbness or pain if the swelling presses on local nerves.
Without treatment, chronic joint bleeding can permanently damage the articular cartilage and surrounding bone, damage the joint, and cause physical deformity. Uncontrolled bleeding can be fatal.
Even minor head injuries can cause intracranial hemorrhage (bleeding inside the skull) in severe cases of hemophilia. Intracranial hemorrhage is a major cause of hemophilia-related death and requires emergency medical attention.
Blood factor replacement and desmopressor therapy
Hemophilia is treated by supplementing low blood factor proteins with healthy replacement proteins. These proteins are most often administered intravenously. In this way, clotting factors enter the bloodstream directly and spread rapidly throughout the body.
The frequency of treatment depends on the severity of the symptoms of hemophilia. Mild hemophilia may only require blood factor replacement before surgery or dental work. Severe hemophilia may require prophylactic treatment: blood factors should be changed several times a week to avoid bleeding.
Safer plasma protein aggregation
In the 1980s, replacement blood factor proteins were “extracted” from plasma donated by thousands of people. Through this pooled plasma, HIV and hepatitis C have spread to many hemophilia.
Strict donor screening and more efficient virus inactivation techniques have significantly reduced the chance of plasma transmission of virus-infected proteins.
Recombinant blood factors
Although donated plasma is safer than it was in the 1980s, new recombinant blood factors are even safer. Recombinant blood factors are synthesized in laboratories using DNA technology. The risk of viral infections is negligible because blood factors are artificially created in a controlled environment.
Recombinant therapy with blood factors IX and VIII is eighty percent as effective as traditional hemophilia treatments. In most cases, one dose is enough to stop uncontrolled bleeding. However, recombinant blood factors are three times more expensive than blood factors collected from donated plasma.
Fight against inhibitors
Blood factors used in hemophilia therapy, whether assembled from donated plasma or using recombinant DNA techniques, can be considered foreign to the body’s immune system. If the immune system sees blood factor proteins as a threat, it creates inhibitors or alloantibodies to attack the “invasive” protein. This can inactivate blood clotting factors.
Alternative blood factor proteins
The ability of these inhibitors to destroy replacement blood factor proteins adversely affects hemophilia treatments. Higher doses of blood factors are often used to counteract inhibitory effects, or blood factors may rise slowly in the hope that the immune system will learn to tolerate the foreign protein.
Inhibitors make it difficult to treat hemophilia A or B with factor VIII or IX. Instead of replacing missing blood factors, treatment can increase the levels of blood factor proteins already produced by the body: protein factors that will not be threatened by the immune system.
However, the use of blood factors VII, IX, and X has been shown to be only fifty to sixty percent effective when inhibitors prevent IX. Or VIII. Factor replacement. Recombinant versions of the blood protein have shown more promise: clinical trials have shown that nearly eighty percent are effective.
Desmopressin is a medicine used to treat mild cases of hemophilia. Although desmopressin does not affect factor IX in the blood, it increases the levels of factor VIII in the blood, so desmopressin may be useful in treating hemophilia A. Desmopressin is based on the hormone DDAVP.
In contrast to blood factor replacement, which usually requires intravenous administration, desmopressin is slowly injected into the blood vessels as a single injection in mild cases of hemophilia. In some cases, desmopressin may also be administered via a nasal inhaler.
Physiotherapy and hemophilia
Severe hemophilia can cause bleeding in the joints, a painful event that gradually deforms the joint and reduces joint mobility. Physiotherapy may be needed to maintain joint mobility. Regular physical therapy helps prevent physical deformities of the joint.
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