Donate to Hemophilia Research, Patient Care and Education
The hereditary genetic disorder hemophilia is characterized by the absence or deficiency of one of the clotting proteins in plasma (a colorless fluid part of blood). Northwestern Medicine has been at the forefront of research and treatment of hemophilia thanks to generous donations from across the world.
Hemophilia is a sex-linked disorder and is caused by an abnormal gene carried by the X chromosome. Hemophilia can occur in both female (two X chromosomes) and male (one X chromosome and one Y chromosome) patients. Daughters of a carrier mother have a 50/50 chance of being a carrier, with sons of a carrier mother having a 50/50 chance of inheriting hemophilia. Daughters of a carrier father must be a carrier, while fathers cannot pass hemophilia onto their sons. For about one-third of hemophilia cases, there is no family history of the disease. In these instances, it is thought hemophilia is the result of a recent genetic mutation.
The severity of bleeding to be expected from an individual with hemophilia varies from patient to patient but is tied to the severity of the deficiency. Levels of severity are broken down as follows:
- Severe: Patients with hemophilia are considered severe when they have no measurable FVIII or FIX (less than 1 percent). Severe hemophilia can result in frequent bleeding episodes that, in many cases, see bleeding occur spontaneously into joints.
- Moderate: Moderate hemophilia is when factor levels fall between 2-5 percent. Individuals with moderate hemophilia may have abnormal bleeding after minor trauma or surgery. Spontaneous bleeding occurs rarely.
- Mild: Hemophilia is considered mild when factor levels are greater than 6 percent. Patients with mild hemophilia can expect to have relatively few problems with bleeding, except during surgery or trauma. It is important to note carrier women can have lower-than-normal plasma levels of FVIII or FIX and can thus have bleeding problems.
Clinical manifestations of hemophilia involve muscle and joint bleeding, easy bruising and prolonged, potentially fatal bleeding following surgery. The most common sites of bleeding are the joints and muscles, however, bleeding can occur in any part of the body. Complications depend on the site of the bleeding, with bleeding in the neck, head, stomach, and intestines considered life-threatening. Patients experiencing this type of bleeding need to seek emergency treatment at Northwestern Medicine.
Treatment of hemophilia involves replacing the deficient factor. This requires an intravenous infusion of the missing factor to initiate the clotting process. Specific treatment depends on the site and severity of bleeding and will be determined by your physician. Comprehensive annual checkups, vaccinations and regular tests for blood-borne infections are all recommended along with exercise and early treatment of bleeds.
Hemophilia Research, Patient Care and Education Donation
Your donations to Northwestern Memorial Foundation go towards research and treatment of hemophilia. Northwestern Medicine continues to lead the way researching and treating hemophilia but there is still much to learn about hemophilia. Every donation goes towards making the world a better place for patients with hemophilia.