Bleeding Disorders 101

Hemophilia

Hemophilia happens when the body does not make enough of a specific clotting factor. Severity or risk of bleeding depends on the level of clotting factor that is present.

There are two main types of hemophilia: Hemophilia A is a deficiency of the clotting Factor 8 and Hemophilia B which is a deficiency in clotting Factor 9.

Hemophilia affects approximately 20,000 persons in the United States. This genetic disorder is characterized by a missing or deficient clotting protein in the plasma, causing delayed clotting (prolonged bleeding). Hemophilia occurs almost exclusively in males. Men then pass the defective gene to their daughters who then become carriers of hemophilia. While there is an incidence of mutation, the genetic defect is carried on the X chromosome. As a result, women are carriers of hemophilia and can have the disorder and/or experience bleeding complications.

Levels of Severity: There are many levels of severities associated with hemophilia (Severities World Hemophilia Federation)

Individuals with hemophilia are at risk for bleeding after trauma, surgery, or dental work. They may also have internal or joint bleeding without an apparent cause. The more deficient you are of the clotting factor the more at risk you are for bleeding.

Carrier Hemophilia

A hemophilia carrier is a female who has the gene that causes hemophilia A (Factor 8) or hemophilia B (Factor 9) deficiency.

Genetic inheritance: The genes for hemophilia A & hemophilia B are carried on the X chromosome. Male chromosomes are XY. Female chromosomes are XX. A male gets an X chromosome from his mother and a Y chromosome from his father. A female gets two X chromosomes – one from each parent. The Y chromosome cannot help to make Factor 8 or Factor 9 for the blood to clot normally. Hence, when a boy receives the X chromosome that carries the hemophilia gene from his mother, he will have hemophilia.

Von Willebrand’s Disease

Von Willebrand’s disease occurs because of abnormalities with an individual’s von Willebrand’s factor. Severity depends on the level and quality of von Willebrand’s factor.

There are three main types of von Willebrand’s disease: Type 1 is a result of abnormally low levels of von Willebrand’s factor. Type 2 is characterized by an irregular von willebrand’s factor being made by the body. Patients may have normal levels of von Willebrand’s factor that do not function properly. There are four different subsets of type 2.

Type 3 occurs when there is essentially no von Willebrand’s factor produced by the body.

von Willebrand disease (vWD) is much more common, found in approximately 1-2% of the U.S. population. Like hemophilia, vWD is inherited from parent to child. The abnormal gene in von Willebrand’s disease is located on a chromosome called an autosome, which means that men and women can pass the defective gene to their children. Unlike hemophilia, vWD occurs equally in men and women.

Individuals with von willebands are at risk for prolonged nosebleeds, easy bruising, abnormal bleeding after surgery, dental work, or injuries. Women are more likely to experience symptoms of heavy or abnormal bleeding during their menstrual bleeding and after childbirth. Older patients are more susceptible to chronic gastrointestinal bleeding.

Platelet Deficiency

Platelets are a critical component of the blood clotting process. Platelets are small, disk shaped cells created in the bone marrow. Their primary role is to help the blood clot through adhesion aggregation activation and secretion. If there is a failure in any of the platelet functions there will be an increased tendency to bleed.

There are two main types of Platelet disorders:

Quantitative platelet disorder, which is the most commonly occurring type of platelet deficiency. There is a decrease in the number of platelets that function normally. Either the body doesn’t make enough OR the platelets get removed too quickly from the body.

Qualitative platelet disorder, this results from an abnormal structure or functioning of the platelet. The platelets are poor “quality”. Some potential causes include missing or abnormal proteins on the surface of the platelet membrane. Decinecry or defectiveness in the platelet granules or their contents (commonly referred to as storage pool disorder).

Platelet deficiencies may or may not be genetically inherited, meaning you don’t need to have a family history to have a platelet disorder, but you could potentially pass the disorder onto your child.

Due to the complexity of platelet disorders, this is often difficult to diagnose.

Individuals with a platelet disorder can experience easy bruising, nose bleeds, mouth or gum bleeds, heavy menstrual bleeding and after childbirth, and bleeding following dental work and surgery.

Rare Bleeding Disorders

There are other less common bleeding disorders that we service. Explore other conditions that can cause bleeding issues.

Factor 7 deficiency is a rare genetic disorder caused by a deficiency or reduced activity of clotting factor 7. This is considered to be the most common of the rare bleeding disorders. It is estimated to occur in every 1 of 300,000-500,00. It is inherited in an autosomal excessive fashion meaning both parents must carry the gene to pass it on to their child. This affects men and women equally. (citation)

Individuals with factor 7 deficiency are at risk for bleeding after trauma, surgery, or dental work. They may also have internal or joint bleeding without an apparent cause. The more deficient a person is in the clotting factor the more at risk they are for bleeding.

Women are more likely to experience symptoms of heavy or abnormal bleeding during their menstrual bleeding and after childbirth.

Acquired Hemophilia is an autoimmune disease. The antibodies from the immune system attack and destroy one of the body’s clotting factors (most often clotting factor 8). This can lead to excessive bleeding and can affect males and females equally.

Acquired hemophilia can be caused by other autoimmune diseases, cancer, pregnancy, or certain drugs but other times there is no known cause. Acquired hemophilia is extremely rare only affecting approximately 1 of 1,000,000 people.

Acquired von Willebrand’s Disease

The immune system can also attack von Willebrand factor, resulting in acquired von Willebrand’s disease.

Unspecified Bleeding Disorder

Individuals with Unspecified bleeding disorders can experience prolonged or excessive bleeding. This may occur spontaneously, after an injury, or a during/following a surgical procedure.

In these situations, although testing is done for all bleeding disorders, there are no abnormal lab results that lead to a specific bleeding disorder diagnosis.

Patients typically present with post surgical/dental bleeding, bruising from minor trauma, nose bleeds, and/or heavy menstrual cycles.
Inheritance for unspecified bleeding disorders is unknown.

Treatment for bleeding prior to procedures may be required even without a formal diagnosis. It is very important that you discuss your abnormal bleeding history with all care providers and make sure HOC is involved in your care.