The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.
Trial Parameters
Brief Summary
Blood contains red blood cells, white blood cells, and platelets, as well as a fluid portion termed plasma. We primarily study blood platelets, but sometimes we also analyze the blood of patients with red blood cell disorders (such as sickle cell disease), white blood cell disorders, and disorders of the blood clotting factors found in plasma. Blood platelets are small cell fragments that help people stop bleeding after blood vessels are damaged. Some individuals have abnormalities in their blood platelets that result in them not functioning properly. One such disorder is Glanzmann thrombasthenia. Most such patients have a bleeding disorder characterized by nosebleeds, gum bleeding, easy bruising (black and blue marks), heavy menstrual periods in women, and excessive bleeding after surgery or trauma. Our laboratory performs advanced tests of platelet function and platelet biochemistry. If we find evidence that a genetic disorder may be responsible, we analyze the genetic material (DNA and RNA) from the volunteer, and when possible, close family members to identify the precise defect.
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, inh