Patient case (clinical description): A 23-year-old female has prolonged oral bleeding immediately after a tooth extraction.  Despite several interventions, the bleeding persists for hours and stops only after desmopressin (DDAVP) administration.  The patient has heavy menstrual cycles each month.  She has no other medical problems and takes no medications.  Her mother and grandmother have also had excessive bleeding during menstrual period.  Review of systems is positive for mild bruising on his legs. Laboratory findings reveal a normal platelet count and an abnormal ristocetin cofactor assay, as well as CB <= 0.30 IU/mL and FVIII:C <= 0.40 IU/mL.

Patient's own account: I'm a 23 woman and I went to the ER because of non-stop bleeding after my tooth extraction. I tried to make the bleeding stop but it just kept going for hours and it finally stopped when I took some medication called DDAVP. I usually have heavy periods, just like my mom and grandma had. I don't have any other medical condition and I don't take any other medication. The doctor noticed the bruises on my legs. I had to do some lab tests. I had a normal platelet count but an abnormal ristocetin cofactor assay. I had low CB and FVIII:C levels.

Clinical trial: The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.

Eligibility criteria:
Inclusion Criteria:

        A. Normal Healthy Volunteers:

          1. Normal healthy volunteers

          2. 18 years of age or older

          3. Either sex

          4. Any ethnic background.

        B. Patients with Glanzmann thrombasthenia or their relatives, inherited qualitative and/or
        quantitative platelet disorders, inherited disorders of white blood cells, inherited
        disorders of coagulation (including von Willebrand disease):

          1. Adults and children

          2. Either sex

          3. Any ethnic background

        Exclusion Criteria:

        A. Normal Healthy Volunteers:

          1. For studies of platelets that may be affected by anti-platelet therapy, ingestion of
             aspirin or similar medication in the past week.

          2. Having given blood in the last 8 weeks such that the current donation would exceed a
             total of 250 ml for the 8 week period.

          3. Having given blood in the past week such that this donation would result in more than
             2 donations in one week.

        B. Patients with Glanzmann thrombasthenia or their relatives, inherited qualitative and/or
        quantitative platelet disorders, inherited disorders of white blood cells, inherited
        disorders of coagulation (including von Willebrand disease).

          1. For studies of platelets that may be affected by antiplatelet therapy, ingestion of
             aspirin or similar medication in the past week

          2. If the patient is known to have a hematocrit ≥25 (assay performed in past 3 months),
             the same blood drawing criteria as in A, with the addition that for children less than
             18 years of age, the maximum amount of blood allowed to be donated in an 8 week period
             is the lesser of 50 ml or 3 ml/kg.

          3. If the patient has a hematocrit <25 or if the hematocrit is unknown, the blood drawing
             limit is the lesser of 20 ml or 1 ml/kg in any 8 week period.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers



Eligibility (NLI label): Entailment