What We Treat

TYPES
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.

HOW COMMON
Hemophilia affects approximately 20,000 persons in the United States.

CAUSES
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.

SEVERITY
Severity of Hemophilia A is determined by the percentage of Factor 9 found in the blood. Please note that hemophilia is very unique to each individual, and the bleeding may not relate to severity (A mild hemophiliac may have more bleeds than a severe)

• Mild – Between 5% and 40%
• Moderate – Between 1% and 5%
• Severe – <1%

SYMPTOMS
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.

A hemophilia carrier is a female who has the gene that causes hemophilia A (Factor 8) or hemophilia B (Factor 9) deficiency. This genetic inheritance pattern helps us understand how hemophilia is passed down in families.

GENETIC INHERITANCE
The genes for hemophilia A & hemophilia B are carried on the X chromosome. Males have one X chromosome from their mother and one Y chromosome from their father (XY), while females inherit two X chromosomes, one from each parent (XX). Since the Y chromosome cannot help make Factor 8 or Factor 9 for normal blood clotting, if a boy inherits the X chromosome with the hemophilia gene from his mother, he will develop hemophilia.

TYPES
The von Willebrand factor (VWF) is a protein in the blood that plays a crucial role in the blood clotting process. It serves as a bridge between platelets and the blood vessel walls, helping platelets adhere to the injured blood vessel and form clots to stop bleeding. VWF also carries and stabilizes a clotting factor called factor VIII, which is essential for blood clotting.

There are three main types of von Willebrand’s disease. Each type has at least one low lab result, but the types are differentiated by the multimers. Type 1 has normal multimers. Type 2 has abnormal multimers. Type 3 has an absence of multimers.

HOW COMMON
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.

SEVERITY
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.

DEFINITION
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.

TYPES
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).

GENETIC INHERITANCE
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.

SYMPTOMS
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.

DEFINITION
HHT is a disorder in which some blood vessels are not properly developed. A person with HHT can have malformed blood vessels, specifically blood vessels that lack capillaries. Capillaries are tiny blood vessels that connect arteries to veins.

SYMPTOMS
Without the capillaries – the tiny blood vessels that connect arteries to veins – the arteries attach directly to the veins resulting in increased pressure. This increased pressure can result in bleeding at these sites. HHT is commonly referred to as Osler-Weber-Rendu (OWR),the names of several doctors who studied HHT in the 1800’s.

The most common symptom in patients with HHT is nosebleeds that may or may not persist throughout the person’s life. These nosebleeds occur in about 90% of patients at some point in their life. Nosebleeds may be very infrequent and can be easily stopped or occur multiple times daily.

HOW COMMON
HHT affects approximately 1 in 5000 people.

Glanzmann’s Thrombasthenia (GT) is a genetic bleeding disorder caused by a malfunction in the platelets, which are essential for blood clotting. This condition results from a deficiency or dysfunction of the glycoprotein IIb/IIIa complex on the platelet surface. GT is characterized by prolonged bleeding times, even with minor injuries, due to the platelets’ inability to form proper clots. Common symptoms include easy bruising, frequent nosebleeds, bleeding gums, and in severe cases, internal bleeding. It is diagnosed through specialized blood tests that assess platelet function and genetic testing. Management of GT involves preventive care, treatment of bleeding episodes with platelet transfusions or other agents, and sometimes, the use of antifibrinolytic drugs to reduce bleeding risk. Living with GT requires ongoing medical supervision to ensure effective management and to maintain a good quality of life.

FACTOR 7 DEFICIENCY
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 300,000-500,000. 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
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 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.