what is delta spd

HPS

Studies about delta SPD and related conditions

Doctors at the National Institutes of Health (USA) are studying delta SPD and related conditions. Both of these studies are currently recruiting patients (as of summer 2006).

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
The purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPS-causing genes will also be conducted.

Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles
This study will obtain and analyze megakaryocytes (bone marrow cells that mature into blood platelets) to learn more about bleeding disorders that result from defective blood platelets.

Note: Some of the doctors involved in these studies have written an article about platelets. The article reference is as follows:
Molecular defects that affect platelet dense granules. Semin Thromb Hemost. 2004 Oct;30(5):537-47.

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For more general information about the National Institutes of Health, visit their website at http://www.nih.gov/.