What We Treat
- One of the most common hereditary bleeding disorders
- X-linked genetic disorder, carried by females who have one normal X- chromosome and one X-chromosome with an abnormal copy of the hemophilia gene
- Most common types are hemophilia A (a result of a clotting factor VIII deficiency) and hemophilia B (a result of clotting factor IX).
- Less common types are a result of deficient clotting Factor II, Factor IX, Factor V, Factor V Leiden, Factor VII, Factor VIII, Factor X, Factor XI, and Factor XII
Von Willebrand Disease (vWD)
- Von Willebrand Disease (vWD) is the most common inherited bleeding disorder
- An estimated 3% of the US Population has vWD
- vWD affects men and women equally, and can be passed on by either parent
- The impact on women is considered greater because of bleeding caused by menstruation and childbirth
There are three types of vWD:
Characterized by lower levels of Von Willebrand factor (VWF). It is the mildest and most common form. Type 1 rarely causes life-threatening bleeding.
The amount of VWF is normal but doesn’t work effectively. Different gene mutations cause subtypes (2A, 2B, 2M and 2N) and each may be treated differently
The most severe form of vWD and often requires replacement clotting factor
- Thrombophilia is a term used to describe a group of conditions in which there is an increased tendency for excessive clotting
- Clotting conditions may be due to a family history of clotting or a diagnosis based on a demonstrated genetic mutation, however, thrombophilia can also be an acquired condition which can occur alone as a manifestation of an autoimmune disorder
- Most times, the underlying cause of thrombophilia is evident, but we are not yet able to identify the cause in all cases
Platelets are small, irregularly shaped blood cell pieces that play an important role in clotting blood. When an injury occurs and a blood clot is needed, the platelets activate and help plug the site of the injury. They attract other proteins needed in the clotting process and they help to form a stable clot. There are several ways or reasons that platelets may not work properly.
The specific problem may result in rare platelet disorders, such as:
BERNARD-SOULIER SYNDROME (BSS)
- Causes a deficiency of glycoprotein lb, the receptor for vWF, which is important in clot formation
- A person with BSS can bleed for a very long time before a clot forms. In fact, it may take more than 20 minutes for the bleeding to stop from even a small cut
GLANZMANN’S THROMBASTHENIA (GT)
- Platelets lack glycoprotein IIb/IIIa (the binding sites for vWF) on the surface.
- Platelets do not adhere or stick to each other as they should. Bleeding continues significantly longer than normal.
PLATELET STORAGE POOL DISEASE (SPD)
- Rare disorders in which platelet granules are affected.
- Chemicals inside the granules are pushed out into the bloodstream, signaling other platelets to form around the plug
- Pronounced, “go-shay”
- Caused by a hereditary deficiency of the enzyme, glucocerebrosidase
- Approximately 1 in 100 people in the general U.S. population are carriers for Type I Gaucher’s disease
- Among people of Ashkenazi Jewish descent, the rate of carriers is considerably higher, at roughly 1 in 15 people
- Testing is available to accurately diagnose those people who have the disease or those who may carry the gene.
- Diagnosis is available through a specialized blood test. Carrier status can be determined by analyzing a person’s DNA
- Prenatal diagnosis is also available
Other bleeding disorders
In addition to deficiencies in Factors VIII and IX, there are numerous other rare clotting factor deficiencies that can cause bleeding problems.
Our on-site Thrombosis Lab provides timely testing and reporting on these Rare Factor Deficiencies.
FACTOR I DEFICIENCY
- Also known as Fibrinogen deficiency, afibrinogenemia, dysfibrinogenemia, or hypofibrinogenemia. Factor I deficiency is a collective term for several rare inherited fibrinogen deficiencies. Fibrinogen may be absent from the blood altogether (afibrinogenemia), present in only very low levels in the blood (hypofibrinogenemia), or measurable in normal quantities but defective (dysfibrinogenemia)
FACTOR II DEFICIENCY
- Also known as prothrombin deficiency
FACTOR V DEFICIENCY
- Also known as Owren’s disease, labile Factor deficiency, proaccelerin deficiency or parahemophilia
FACTOR VII DEFICIENCY
- Also known as Alexander’s disease, stable Factor deficiency, or proconvertin deficiency
FACTOR X DEFICIENCY
- Also known as Stuart-Prower Factor Deficiency
FACTOR XI DEFICIENCY
- Can also be known as Hemophilia C, Plasma Thromboplastin Antecedent (PTA) Deficiency, Rosenthal Syndrome.
FACTOR XII DEFICIENCY
- Also known as Hageman Factor deficiency.