Which type of haemophilia is the most common
As such, the condition may remain undiagnosed until adulthood. Treatment for hemophilia A typically consists of supplying FVIII to patients intravenously, or directly into the bloodstream, as needed.
People with severe forms of the disease also may receive FVIII prophylactically, or as preventive measure, to maintain clotting factor levels in their blood sufficiently high at all times. Such preventive measures help type A patients to avoid spontaneous bleeds. Also known as Christmas disease, from the first person to be diagnosed with this disorder type, hemophilia B stems from mutations in the F9 gene. Type B is similar to hemophilia A, in that F9 also is found on the X chromosome, making males more susceptible to the disease than females.
Yet, hemophilia B is approximately four times less common than hemophilia A. Like hemophilia A, hemophilia B also can be divided into three categories of severity mild, moderate, and severe , based on FIX activity levels following the same percentage intervals.
Treatment for hemophilia B usually involves supplying FIX to patients prophylactically on a regular basis to prevent bleeds, or on an on-demand basis to treat bleeding episodes. FXI assists in clotting by helping produce thrombin, a protein that converts fibrinogen — a soluble protein present in blood plasma — to fibrin.
Fibrin traps small cell fragments called platelets, holding them together to keep a blood clot in place. Unlike other types of hemophilia, the F11 gene encoding FXI is not located on the X chromosome, but on chromosome 4. A clotting factor test, called an assay, will show the type of hemophilia and the severity, or how much clotting factor the person produces on their own. Most people who have a family history of hemophilia will ask that their baby boys be tested soon after birth to see if they have hemophilia.
If there is no family history of hemophilia, people often notice bleeding that takes longer to stop or lots of bruising. Many babies born with severe hemophilia are diagnosed if there is prolonged bleeding after circumcision. For girls, it often takes seeing worsening of symptoms for the diagnosis process to begin.
Most girls are not tested for hemophilia before puberty. Heavy periods are a symptom of a bleeding disorder in women and girls. If there is a known family history, it is important to monitor for symptoms. It is recommended that women who have a family history of hemophilia get tested before getting pregnant, to help prevent complications during childbirth.
The best place for patients with hemophilia to be diagnosed and treated is at one of the federally funded hemophilia treatment centers HTCs that are spread throughout the country.
HTCs provide comprehensive care from skilled hematologists and other professional staff, including nurses, physical therapists, social workers and sometimes dentists, dieticians and other healthcare providers, including specialized labs for more accurate lab testing. Find a hemophilia treatment center near you. Most treatments for hemophilia A focus on replacing the missing protein, FVIII 8 , so a person can form a clot, and so reduce or eliminate the bleeds associated with the disorder.
Treatments that work to prevent bleeding through new mechanisms have recently come to the market or are in clinical trials. People with hemophilia A have several different medication options for treatment. See all FDA-approved treatments for hemophilia A. There are two types of clotting factor: plasma-derived and recombinant. Plasma-derived factor is made from human plasma.
Recombinant factor products are developed in a lab through the use of DNA technology. To maintain enough clotting factor in the bloodstream to prevent bleeds, patients with severe hemophilia are typically prescribed a regular treatment regimen, called prophylaxis — or prophy for short. This means a person will infuse their medication on a regular schedule — for example every day or every other day, depending on how long the factor lasts in the body.
Watch our video on how clotting factor works. New treatments that use other ways of preventing bleeds are also available. These treatments are known as non-factor replacement therapies. One available therapy is emicizumab, a laboratory-engineered protein that works by performing a key function in the clotting cascade that is normally carried out by the FVIII protein.
It can be prescribed for routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adults and children of all ages, newborn and older, with hemophilia A with and without factor VIII inhibitors. Emicizumab is not infused, but injected under the skin subcutaneously. It is important to discuss all treatment options with your doctor or the staff at your HTC. Hemophilia A is about four times as common as hemophilia B, and about half of those affected have the severe form.
Hemophilia affects people from all racial and ethnic groups. Many people who have or have had family members with hemophilia will ask that their baby boys get tested soon after birth. About one-third of babies who are diagnosed with hemophilia have a new mutation not present in other family members. In these cases, a doctor might check for hemophilia if a newborn is showing certain signs of hemophilia.
To make a diagnosis, doctors would perform certain blood tests to show if the blood is clotting properly. If it does not, then they would do clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder. These blood tests would show the type of hemophilia and the severity. Learn more about diagnosis.
The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing administering through a vein commercially prepared factor concentrates. People with hemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis called prophylaxis , can even prevent most bleeding episodes.
Good quality medical care from doctors and nurses who know a lot about the disorder can help prevent some serious problems. An HTC not only provides care to address all issues related to the disorder, but also provides health education that helps people with hemophilia stay healthy. Hemorrhaging typically occurs after trauma or surgery. Hemophilia is an inherited genetic condition. In extremely rare cases, hemophilia can develop after birth. The extent of your symptoms depends on the severity of your factor deficiency.
People with a mild deficiency may bleed in the case of trauma. People with a severe deficiency may bleed for no reason. The following symptoms constitute a medical emergency. You should get treatment right away for any of these symptoms:. For follow-up care and condition management, you can connect to a primary care doctor in your area using the Healthline FindCare tool.
Blood platelets coagulate, or gather together at the wound site, to form a clot. A low level of these clotting factors or the absence of them causes bleeding to continue. Hemophilia is an inherited genetic condition, meaning it is passed down through families. These genes are located on the X chromosome, making hemophilia an X-linked recessive disease.
Each person inherits two sex chromosomes from their parents. Females have two X chromosomes. Males have one X and one Y chromosome. Males inherit an X chromosome from their mother and a Y chromosome from their father. Females receive an X chromosome from each parent. A female with one X chromosome that has the altered gene has a 50 percent chance of passing that gene to her children, male or female.
0コメント