The popular and public perception of hemophilia is an exclusively male inherited bleeding disorder. It is certainly the case that classic hemophilia A and B are found primarily in males, whereas the gene is carried by females.
This is far from the complete story.Women rarely suffer from severe hemophilia either via genetic inheritance or mutation or via a process known as lyonization of the chromosome which is explained in this guide. However, it is quite common for carriers of hemophilia to have relatively low factor levels which categorize them as having mild hemophilia.
This guide covers the basics of how blood clots, the inheritance of bleeding disorders and gives an introduction to hemophilia and Von Willebrand’s Disease. This guide also covers potential
consequences of a bleeding disorder including menstrual problems, contraceptive therapy, and hysterectomy.
Life events including pregnancy and menopause are discussed in the context of a bleeding disorder. The psychosocial aspects are explored. We hope that this guide will help to empower you to live positively with your bleeding disorder.
1. What Is Hemophilia
Hemophilia is an inherited blood disorder. That means it’s passed from the parent to the child through genes. The gene that causes hemophilia is carried by women. In about one-third of cases of hemophilia, however, there is no known family history of hemophilia; instead, the disorder results when a spontaneous change in a gene (called a mutation) occur. Hemophilia is a bleeding disorder in which one of the proteins that cause the blood to clot (called blood clotting factors) is missing or there isn’t enough of it to work properly
2. Types of Hemophilia
• The most common type of hemophilia is called hemophilia A. This means the person does not have enough clotting factor VIII (factor eight).
• Haemophilia B is less common. A person with hemophilia B does not have enough factor IX (factor nine). The symptoms are the same for people with hemophilia A and B; that is, they bleed for a longer time than normal
3. Facts Of Hemophilia
Hemophilia occurs in 1 in 6,000-10,000 males internationally. Bleeding is most commonly internal into the joints and/or muscles. Less commonly, bleeding into internal organs can also occur. It can happen without an obvious cause (sometimes called ‘spontaneous’), or as a result of the injury. Over time this internal bleeding into joints (‘bleeds’) can cause severe arthritis, chronic pain, and disability. Specialized treatment is needed to help blood clot normally.
With appropriate treatment, hemophilia can be managed effectively. Haemophilia is an inherited condition and occurs in families; however, in 1/3 of cases, it appears. in families with no previous history of the disorder. The hemophilia gene is passed down from parent to child through generations.
Men with hemophilia will pass the gene on to their daughters but not their sons. Women who carry the hemophilia gene can pass the hemophilia gene on to their sons and daughters. Sons with the gene will have hemophilia. Some women and girls who carry the gene may also experience bleeding problems.
4. What are Bleeding Disorders
In people with bleeding disorders, the clotting process doesn’t work properly. As a result, people with bleeding disorders can bleed for longer than normal, and some may experience spontaneous bleeding into joints, muscles, or other parts of their bodies.
Bleeding disorders affect blood clotting. Without effective blood clotting, large external cuts and lacerations and internal injuries, including soft tissue and joint bleeds, cannot heal properly. Internal bleeding into the joints can cause pain, swelling, and, if left untreated, can lead to permanent damage.
Two of the more common types of bleeding disorders are hemophilia and von. Willebrand disease (VWD). Currently, there is no cure for hemophilia or VWD, but there are treatments to help people with these bleeding disorders lead healthy, active lives. Because many bleeding disorders are due to a lack of blood clotting factors, the mainstay of treatment is the replacement of the deficient clotting factor.
5. Are Disorders Inherited or Acquired
Bleeding disorders are almost always inherited or passed through families; they have a genetic basis and the genes responsible for the disorders are passed from parents to children. However, a person can also spontaneously develop a bleeding disorder, although this is rare.
Acquired bleeding disorders are not inherited or passed through families. Most acquired bleeding disorders have an identifiable root cause. Men and women are equally likely to be affected by an acquired bleeding disorder, and the potential for problems is high.
6. Inherited Platelet Disorders
Platelets are small parts of cells that circulate in the blood. They are involved in the formation of blood clots and the repair of damaged blood vessels. When a blood vessel is injured, platelets stick to the damaged area and spread along the surface to stop the bleeding (this process is called adhesion).
At the same time, chemical signals are released from small sacks inside the platelets called granules (this process is called secretion). These chemicals attract other platelets to the site of injury and make them clump together to form what is called a platelet plug (this process is called aggregation).
7. What are Platelet Function Disorders
Platelet function disorders are conditions in which platelets don’t work the way they should, resulting in a tendency to bleed or bruise. Since the platelet plug does not form properly, bleeding can continue for longer than normal. Since platelets have many roles in blood clotting, platelet function disorders can lead to bleeding disorders of various intensities.
Mild conditions may require no treatment or treatment only under special circumstances, such as surgery. More severe conditions may require regular interventions. Treatment may occur in a hospital or other medical facilities, or at home. The treatments may be regular and preventative (prophylaxis), or on demand (when a bleed occurs).
Often the treatments involve providing a replacement for the missing or defective clotting factors. Products used include plasma-derived and recombinant clotting factors, cryoprecipitate and
Desmopressin (1-desamino-8-D-arginine vasopressin; DDAVP) which can stimulate the release of Factor VIII and VWF from stores in the body (this is not used in hemophilia B or Factor IX deficiency). In some patients, therapy is complicated when their body develops inhibitors that destroy the replacement clotting factors and another treatment is necessary.