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

For normal volunteers, we recruit from laboratory personnel and other volunteers from the NYC area. Patients with sickle cell disease and cardiovascular disease associated with increased intravascular shear forces are recruited from physicians in the New York area who care for such patients. Patients with platelet disorders, coagulation disorders, or white blood cell disorders, are recruited from among patients referred by other physicians to the P.I. for assessment or via the internet.

Normal Volunteers Inclusion criteria: Normal, healthy volunteers 18 years of age or older of either sex and any ethnic background.

Exclusion criteria: 1. For studies of platelets that may be affected by antiplatelet 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, end stage renal disease, sickle cell disease or related disorders, inherited qualitative and/or quantitative platelet disorders, inherited disorders of white blood cells, inherited disorders of coagulation (including von Willebrand disease), and patients with diseases associated with increased intravascular shear forces (e.g., obstructive coronary disease, aortic stenosis, and coarctation of the aorta).

Inclusion criteria: Adults and children of either sex and any ethnic background.

Exclusion criteria: 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.